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

NC_000020.11:g.10239811C>A , CM000682.2:g.10239811C>A | GRCh38 |

NC_000020.10:g.10220459C>A , CM000682.1:g.10220459C>A | GRCh37 |

NC_000020.9:g.10168459C>A | NCBI36 |

NG_029626.1:g.25983C>A |

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

ENST00000254976.7:c.-64+20834C>A MANE Select | ENSP00000254976.3:p.= | |

ENST00000254976.6:c.-64+20834C>A | ENSP00000254976.2:p.= | |

ENST00000304886.6:c.-64+20834C>A | ENSP00000307341.2:p.= | |

ENST00000430336.1:c.-64+20598C>A | ENSP00000400720.1:p.= | |

NM_003081.3:c.-64+20834C>A | NP_003072.2:p.= | |

NM_130811.2:c.-64+20834C>A | NP_570824.1:p.= | |

XM_005260808.3:c.-64+20598C>A | XP_005260865.1:p.= | |

XM_005260810.3:c.-64+20598C>A | XP_005260867.1:p.= | |

NM_001322902.1:c.-64+20598C>A | NP_001309831.1:p.= | |

NM_001322903.1:c.-64+5474C>A | NP_001309832.1:p.= | |

NM_001322904.1:c.-64+12373C>A | NP_001309833.1:p.= | |

NM_001322905.1:c.-123-4164C>A | NP_001309834.1:p.= | |

NM_001322906.1:c.-64+1785C>A | NP_001309835.1:p.= | |

NM_001322907.1:c.-64+12373C>A | NP_001309836.1:p.= | |

NM_001322908.1:c.-241-4164C>A | NP_001309837.1:p.= | |

NM_001322909.1:c.-108-19546C>A | NP_001309838.1:p.= | |

NM_001322910.1:c.-64+12373C>A | NP_001309839.1:p.= | |

NM_003081.4:c.-64+20834C>A | NP_003072.2:p.= | |

NM_130811.3:c.-64+20834C>A | NP_570824.1:p.= | |

XM_005260808.5:c.-64+20598C>A | XP_005260865.1:p.= | |

XM_017028021.2:c.-123-4164C>A | XP_016883510.1:p.= | |

XM_017028022.1:c.-64+1785C>A | XP_016883511.1:p.= | |

NM_001322902.2:c.-64+20598C>A | NP_001309831.1:p.= | |

NM_001322903.2:c.-64+5474C>A | NP_001309832.1:p.= | |

NM_001322904.2:c.-64+12373C>A | NP_001309833.1:p.= | |

NM_001322905.2:c.-123-4164C>A | NP_001309834.1:p.= | |

NM_001322906.2:c.-64+1785C>A | NP_001309835.1:p.= | |

NM_001322907.2:c.-64+12373C>A | NP_001309836.1:p.= | |

NM_001322908.2:c.-241-4164C>A | NP_001309837.1:p.= | |

NM_001322909.2:c.-108-19546C>A | NP_001309838.1:p.= | |

NM_001322910.2:c.-64+12373C>A | NP_001309839.1:p.= | |

NM_003081.5:c.-64+20834C>A | NP_003072.2:p.= | |

NM_130811.4:c.-64+20834C>A MANE Select | NP_570824.1:p.= |