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

NC_000006.12:g.154039662A>T , CM000668.2:g.154039662A>T | GRCh38 |

NC_000006.11:g.154360797A>T , CM000668.1:g.154360797A>T | GRCh37 |

NC_000006.10:g.154402490A>T | NCBI36 |

NG_021208.1:g.34162A>T | |

NG_021208.2:g.34162A>T |

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

ENST00000330432.12:c.118A>T MANE Select | ENSP00000328264.7:p.Asn40Tyr | |

ENST00000229768.9:c.118A>T | ENSP00000229768.5:p.Asn40Tyr | |

ENST00000330432.11:c.118A>T | ENSP00000328264.7:p.Asn40Tyr | |

ENST00000337049.8:c.118A>T | ENSP00000338381.4:p.Asn40Tyr | |

ENST00000360422.8:c.304A>T | ENSP00000353598.5:p.Asn102Tyr | |

ENST00000414028.6:c.118A>T | ENSP00000399359.2:p.Asn40Tyr | |

ENST00000419506.6:c.118A>T | ENSP00000403549.2:p.Asn40Tyr | |

ENST00000428397.6:c.118A>T | ENSP00000411903.2:p.Asn40Tyr | |

ENST00000434900.6:c.397A>T | ENSP00000394624.2:p.Asn133Tyr | |

ENST00000435918.6:c.118A>T | ENSP00000413752.2:p.Asn40Tyr | |

ENST00000452687.6:c.118A>T | ENSP00000410497.2:p.Asn40Tyr | |

ENST00000518759.5:c.47+29103A>T | ENSP00000430260.1:p.= | |

ENST00000519083.5:c.118A>T | ENSP00000431048.1:p.Asn40Tyr | |

ENST00000520282.5:c.262A>T | ENSP00000430247.1:p.Asn88Tyr | |

ENST00000520708.5:c.-11+28644A>T | ENSP00000430876.1:p.= | |

ENST00000522739.5:c.118A>T | ENSP00000428018.1:p.Asn40Tyr | |

ENST00000523520.1:n.299A>T | ||

ENST00000524150.2:c.118A>T | ENSP00000430575.1:p.Asn40Tyr | |

ENST00000524163.5:c.118A>T | ENSP00000430097.1:p.Asn40Tyr | |

NM_000914.4:c.118A>T | NP_000905.3:p.Asn40Tyr | |

NM_001008503.2:c.118A>T | NP_001008503.2:p.Asn40Tyr | |

NM_001008504.3:c.118A>T | NP_001008504.2:p.Asn40Tyr | |

NM_001008505.2:c.118A>T | NP_001008505.2:p.Asn40Tyr | |

NM_001145279.3:c.397A>T | NP_001138751.1:p.Asn133Tyr | |

NM_001145280.3:c.-11+28644A>T | NP_001138752.1:p.= | |

NM_001145281.2:c.47+29103A>T | NP_001138753.1:p.= | |

NM_001145282.2:c.118A>T | NP_001138754.1:p.Asn40Tyr | |

NM_001145283.2:c.118A>T | NP_001138755.1:p.Asn40Tyr | |

NM_001145284.3:c.118A>T | NP_001138756.1:p.Asn40Tyr | |

NM_001145285.2:c.118A>T | NP_001138757.1:p.Asn40Tyr | |

NM_001145286.2:c.118A>T | NP_001138758.1:p.Asn40Tyr | |

NM_001285522.1:c.118A>T | NP_001272451.1:p.Asn40Tyr | |

NM_001285523.1:c.118A>T | NP_001272452.1:p.Asn40Tyr | |

NM_001285524.1:c.397A>T | NP_001272453.1:p.Asn133Tyr | |

NR_104348.1:n.252A>T | ||

NR_104349.1:n.252A>T | ||

NR_104350.1:n.252A>T | ||

NR_104351.1:n.252A>T | ||

XM_006715497.2:c.304A>T | XP_006715560.1:p.Asn102Tyr | |

XM_011535849.1:c.397A>T | XP_011534151.1:p.Asn133Tyr | |

NM_001285523.2:c.118A>T | NP_001272452.1:p.Asn40Tyr | |

XM_017010907.2:c.304A>T | XP_016866396.1:p.Asn102Tyr | |

NM_000914.5:c.118A>T MANE Select | NP_000905.3:p.Asn40Tyr | |

NM_001008503.3:c.118A>T | NP_001008503.2:p.Asn40Tyr | |

NM_001008504.4:c.118A>T | NP_001008504.2:p.Asn40Tyr | |

NM_001145279.4:c.397A>T | NP_001138751.1:p.Asn133Tyr | |

NM_001145280.4:c.-11+28644A>T | NP_001138752.1:p.= | |

NM_001145281.3:c.47+29103A>T | NP_001138753.1:p.= | |

NM_001145285.3:c.118A>T | NP_001138757.1:p.Asn40Tyr | |

NM_001145286.3:c.118A>T | NP_001138758.1:p.Asn40Tyr | |

NM_001285523.3:c.118A>T | NP_001272452.1:p.Asn40Tyr |