ClinVar Variation Id:
370642

ClinVar RCV Id:
RCV000410516

dbSNP Id:
rs1057516650

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

NC_000017.11:g.50167945A>G , CM000679.2:g.50167945A>G | GRCh38 |

NC_000017.10:g.48245306A>G , CM000679.1:g.48245306A>G | GRCh37 |

NC_000017.9:g.45600305A>G | NCBI36 |

NG_008889.1:g.6941A>G , LRG_203:g.6941A>G |

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

NM_000023.2:c.313-2A>G , LRG_203t1:c.313-2A>G | NP_000014.1:p.= | |

NM_001135697.1:c.313-2A>G VV | NP_001129169.1:p.= | |

XM_011525120.1:c.313-2A>G | XP_011523422.1:p.= | |

XM_011525121.1:c.313-2A>G | XP_011523423.1:p.= | |

XM_011525122.1:c.313-2A>G | XP_011523424.1:p.= | |

XM_011525123.1:c.313-2A>G | XP_011523425.1:p.= | |

XM_011525124.1:c.7-2A>G | XP_011523426.1:p.= | |

XR_934517.1:n.379-2A>G | ||

NM_000023.3:c.313-2A>G VV | NP_000014.1:p.= | |

NM_001135697.2:c.313-2A>G VV | NP_001129169.1:p.= | |

NR_135553.1:n.369-2A>G | ||

XM_011525120.2:c.475-2A>G | XP_011523422.2:p.= | |

XM_011525121.2:c.475-2A>G | XP_011523423.2:p.= | |

XM_011525122.2:c.475-2A>G | XP_011523424.2:p.= | |

XM_011525123.2:c.475-2A>G | XP_011523425.2:p.= | |

XM_011525124.2:c.7-2A>G | XP_011523426.1:p.= | |

XM_024450873.1:c.7-2A>G | XP_024306641.1:p.= | |

XR_002958056.1:n.831-2A>G | ||

NM_000023.4:c.313-2A>G VV MANE Preferred | NP_000014.1:p.= | |

ENST00000262018.7:c.313-2A>G | ENSP00000262018.3:p.= | |

ENST00000344627.10:c.313-2A>G | ENSP00000345522.6:p.= | |

ENST00000502555.5:c.158-2A>G | ENSP00000422817.1:p.= | |

ENST00000511303.5:n.34-2A>G | ENSP00000426104.1:p.= | |

ENST00000512526.1:n.148-2A>G | ||

ENST00000513821.5:c.313-2A>G | ENSP00000426571.1:p.= | |

ENST00000513942.5:n.104-2A>G | ||

ENST00000514934.1:c.*19-2A>G | ENSP00000423168.1:p.= |