ClinVar Variation Id:
371361

ClinVar RCV Id:
RCV000409065

dbSNP Id:
rs1057517213

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

NC_000011.10:g.108284225A>G , CM000673.2:g.108284225A>G | GRCh38 |

NC_000011.9:g.108154952A>G , CM000673.1:g.108154952A>G | GRCh37 |

NC_000011.8:g.107660162A>G | NCBI36 |

NG_009830.1:g.66394A>G , LRG_135:g.66394A>G |

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

NM_000051.3:c.3747-2A>G , LRG_135t1:c.3747-2A>G | NP_000042.3:p.= | |

XM_005271561.3:c.3747-2A>G | XP_005271618.2:p.= | |

XM_005271562.3:c.3747-2A>G | XP_005271619.2:p.= | |

XM_006718843.2:c.3747-2A>G | XP_006718906.1:p.= | |

XM_011542840.1:c.3747-2A>G | XP_011541142.1:p.= | |

XM_011542841.1:c.3747-2A>G | XP_011541143.1:p.= | |

XM_011542842.1:c.3582-2A>G | XP_011541144.1:p.= | |

XM_011542843.1:c.3747-2A>G | XP_011541145.1:p.= | |

XM_011542844.1:c.2703-2A>G | XP_011541146.1:p.= | |

XM_011542845.1:c.2439-2A>G | XP_011541147.1:p.= | |

XM_011542846.1:c.3747-2A>G | XP_011541148.1:p.= | |

NM_001351834.1:c.3747-2A>G VV | NP_001338763.1:p.= | |

XM_005271562.5:c.3747-2A>G | XP_005271619.2:p.= | |

XM_006718843.4:c.3747-2A>G | XP_006718906.1:p.= | |

XM_011542840.3:c.3747-2A>G | XP_011541142.1:p.= | |

XM_011542842.3:c.3582-2A>G | XP_011541144.1:p.= | |

XM_011542843.2:c.3747-2A>G | XP_011541145.1:p.= | |

XM_011542844.3:c.2703-2A>G | XP_011541146.1:p.= | |

XM_011542845.2:c.2439-2A>G | XP_011541147.1:p.= | |

XM_017017789.2:c.3747-2A>G | XP_016873278.1:p.= | |

XM_017017790.2:c.3747-2A>G | XP_016873279.1:p.= | |

XM_017017791.1:c.3747-2A>G | XP_016873280.1:p.= | |

XM_017017792.2:c.3747-2A>G | XP_016873281.1:p.= | |

XR_002957150.1:n.4480-2A>G | ||

NM_001351834.2:c.3747-2A>G VV | NP_001338763.1:p.= | |

ENST00000278616.8:c.3747-2A>G | ENSP00000278616.4:p.= | |

ENST00000452508.6:c.3747-2A>G | ENSP00000388058.2:p.= | |

ENST00000527805.5:c.3747-2A>G | ENSP00000435747.1:p.= |