HGVS | Genome Assembly |
---|---|

NC_000010.11:g.121517385A>T , CM000672.2:g.121517385A>T | GRCh38 |

NC_000010.10:g.123276899A>T , CM000672.1:g.123276899A>T | GRCh37 |

NC_000010.9:g.123266889A>T | NCBI36 |

NG_012449.1:g.86074T>A | |

NG_012449.2:g.86074T>A |

HGVS | Amino-acid change | |
---|---|---|

ENST00000358487.10:c.1018T>A MANE Select | ENSP00000351276.6:p.Tyr340Asn | |

ENST00000336553.10:c.751T>A | ENSP00000337665.6:p.Tyr251Asn | |

ENST00000346997.6:c.1018T>A | ENSP00000263451.5:p.Tyr340Asn | |

ENST00000351936.10:c.1024T>A | ENSP00000309878.9:p.Tyr342Asn | |

ENST00000356226.8:c.673T>A | ENSP00000348559.4:p.Tyr225Asn | |

ENST00000357555.9:c.751T>A | ENSP00000350166.5:p.Tyr251Asn | |

ENST00000358487.9:c.1018T>A | ENSP00000351276.5:p.Tyr340Asn | |

ENST00000360144.7:c.820+1297T>A | ENSP00000353262.3:p.= | |

ENST00000369056.5:c.1087+1297T>A | ENSP00000358052.1:p.= | |

ENST00000369058.7:c.1087+1297T>A | ENSP00000358054.3:p.= | |

ENST00000369059.5:c.742+1297T>A | ENSP00000358055.1:p.= | |

ENST00000369060.8:c.939+2594T>A | ENSP00000358056.4:p.= | |

ENST00000369061.8:c.749-2066T>A | ENSP00000358057.4:p.= | |

ENST00000457416.6:c.1087+1297T>A | ENSP00000410294.2:p.= | |

ENST00000463870.5:n.227T>A | ||

ENST00000478859.5:c.334T>A | ENSP00000474011.1:p.Tyr112Asn | |

ENST00000490349.5:n.1427T>A | ||

ENST00000604236.5:c.*65T>A | ENSP00000474109.1:p.= | |

ENST00000613048.4:c.751T>A | ENSP00000484154.1:p.Tyr251Asn | |

NM_000141.4:c.1018T>A | NP_000132.3:p.Tyr340Asn | |

NM_001144913.1:c.1087+1297T>A | NP_001138385.1:p.= | |

NM_001144914.1:c.749-2066T>A | NP_001138386.1:p.= | |

NM_001144915.1:c.751T>A | NP_001138387.1:p.Tyr251Asn | |

NM_001144916.1:c.673T>A | NP_001138388.1:p.Tyr225Asn | |

NM_001144917.1:c.939+2594T>A | NP_001138389.1:p.= | |

NM_001144918.1:c.673T>A | NP_001138390.1:p.Tyr225Asn | |

NM_001144919.1:c.820+1297T>A | NP_001138391.1:p.= | |

NM_022970.3:c.1087+1297T>A | NP_075259.4:p.= | |

NM_023029.2:c.751T>A | NP_075418.1:p.Tyr251Asn | |

NR_073009.1:n.1468T>A | ||

XM_006717708.2:c.1144+1297T>A | XP_006717771.1:p.= | |

XM_006717709.2:c.1075T>A | XP_006717772.1:p.Tyr359Asn | |

XM_006717710.2:c.1144+1297T>A | XP_006717773.1:p.= | |

XM_006717711.2:c.877+1297T>A | XP_006717774.1:p.= | |

XM_006717712.2:c.799+1297T>A | XP_006717775.1:p.= | |

XM_006717713.2:c.1075T>A | XP_006717776.1:p.Tyr359Asn | |

XM_011539510.1:c.334T>A | XP_011537812.1:p.Tyr112Asn | |

NM_001320654.1:c.334T>A | NP_001307583.1:p.Tyr112Asn | |

NM_001320658.1:c.1018T>A | NP_001307587.1:p.Tyr340Asn | |

XM_006717708.3:c.1144+1297T>A | XP_006717771.1:p.= | |

XM_006717710.4:c.1144+1297T>A | XP_006717773.1:p.= | |

XM_017015920.2:c.1144+1297T>A | XP_016871409.1:p.= | |

XM_017015921.2:c.1075T>A | XP_016871410.1:p.Tyr359Asn | |

XM_017015924.2:c.730T>A | XP_016871413.1:p.Tyr244Asn | |

XM_017015925.2:c.730T>A | XP_016871414.1:p.Tyr244Asn | |

XM_024447887.1:c.808T>A | XP_024303655.1:p.Tyr270Asn | |

XM_024447888.1:c.877+1297T>A | XP_024303656.1:p.= | |

XM_024447889.1:c.808T>A | XP_024303657.1:p.Tyr270Asn | |

XM_024447890.1:c.877+1297T>A | XP_024303658.1:p.= | |

XM_024447891.1:c.799+1297T>A | XP_024303659.1:p.= | |

XM_024447892.1:c.-153T>A | XP_024303660.1:p.= | |

NM_000141.5:c.1018T>A MANE Select | NP_000132.3:p.Tyr340Asn | |

NM_001144917.2:c.939+2594T>A | NP_001138389.1:p.= | |

NM_001144918.2:c.673T>A | NP_001138390.1:p.Tyr225Asn | |

NM_001144919.2:c.820+1297T>A | NP_001138391.1:p.= | |

NM_001320658.2:c.1018T>A | NP_001307587.1:p.Tyr340Asn | |

NR_073009.2:n.1454T>A | ||

NM_001144915.2:c.751T>A | NP_001138387.1:p.Tyr251Asn | |

NM_001144916.2:c.673T>A | NP_001138388.1:p.Tyr225Asn | |

NM_001320654.2:c.334T>A | NP_001307583.1:p.Tyr112Asn |