ClinVar Variation Id:
242841

ClinVar RCV Id:
RCV000234912

dbSNP Id:
rs765591205

ExAC:
3:154836533 A / G

gnomAD:
3:154836533 A / G

PubMed:
PMID:26991897

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

NC_000003.12:g.155118744A>G , CM000665.2:g.155118744A>G | GRCh38 |

NC_000003.11:g.154836533A>G , CM000665.1:g.154836533A>G | GRCh37 |

NC_000003.10:g.156319227A>G | NCBI36 |

NG_051105.1:g.99621A>G |

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

NM_000902.3:c.655-2A>G VV | NP_000893.2:p.= | |

NM_007287.2:c.655-2A>G VV | NP_009218.2:p.= | |

NM_007288.2:c.655-2A>G VV | NP_009219.2:p.= | |

NM_007289.2:c.655-2A>G VV | NP_009220.2:p.= | |

XM_006713646.2:c.655-2A>G | XP_006713709.1:p.= | |

XM_006713647.2:c.655-2A>G | XP_006713710.1:p.= | |

XM_011512855.1:c.655-2A>G | XP_011511157.1:p.= | |

XM_011512856.1:c.655-2A>G | XP_011511158.1:p.= | |

XM_011512857.1:c.655-2A>G | XP_011511159.1:p.= | |

XM_011512858.1:c.655-2A>G | XP_011511160.1:p.= | |

NM_001354642.1:c.655-2A>G VV | NP_001341571.1:p.= | |

NM_001354643.1:c.655-2A>G VV | NP_001341572.1:p.= | |

NM_007288.3:c.655-2A>G VV | NP_009219.2:p.= | |

NM_007289.3:c.655-2A>G VV | NP_009220.2:p.= | |

XM_006713647.4:c.655-2A>G | XP_006713710.1:p.= | |

XM_011512856.2:c.655-2A>G | XP_011511158.1:p.= | |

XM_011512857.2:c.655-2A>G | XP_011511159.1:p.= | |

NM_000902.4:c.655-2A>G VV | NP_000893.2:p.= | |

NM_007287.3:c.655-2A>G VV | NP_009218.2:p.= | |

NM_007289.4:c.655-2A>G VV MANE Preferred | NP_009220.2:p.= | |

ENST00000360490.6:c.655-2A>G | ENSP00000353679.2:p.= | |

ENST00000460393.5:c.655-2A>G | ENSP00000418525.1:p.= | |

ENST00000462745.5:c.655-2A>G | ENSP00000419653.1:p.= | |

ENST00000481828.5:c.655-2A>G | ENSP00000420101.1:p.= | |

ENST00000492661.5:c.655-2A>G | ENSP00000420389.1:p.= | |

ENST00000493237.5:c.655-2A>G | ENSP00000417079.1:p.= | |

ENST00000615825.1:n.655-2A>G | ENSP00000478173.1:p.= |