ClinVar Variation Id:
12279

ClinVar RCV Id:
RCV000013070

dbSNP Id:
rs587776766

PubMed:
PMID:9497253

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

NC_000002.12:g.233768218A>G , CM000664.2:g.233768218A>G | GRCh38 |

NC_000002.11:g.234676864A>G , CM000664.1:g.234676864A>G | GRCh37 |

NC_000002.10:g.234341603A>G | NCBI36 |

NG_002601.2:g.183475A>G | |

NG_033238.1:g.12946A>G , LRG_733:g.12946A>G |

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

ENST00000305139.11:c.1082-2A>G MANE Select | ENSP00000303174.6:p.= | |

ENST00000305208.10:c.1085-2A>G MANE Select | ENSP00000304845.5:p.= | |

ENST00000354728.5:c.1076-2A>G MANE Select | ENSP00000346768.4:p.= | |

ENST00000373409.8:c.1088-2A>G MANE Select | ENSP00000362508.4:p.= | |

ENST00000305139.10:c.1082-2A>G | ENSP00000303174.6:p.= | |

ENST00000305208.9:c.1085-2A>G | ENSP00000304845.5:p.= | |

ENST00000344644.9:c.1076-2A>G | ENSP00000343838.5:p.= | |

ENST00000354728.4:c.1076-2A>G | ENSP00000346768.4:p.= | |

ENST00000360418.4:n.1085-2A>G | ENSP00000353593.3:p.= | |

ENST00000373409.7:c.1088-2A>G | ENSP00000362508.3:p.= | |

ENST00000373414.3:n.1088-2A>G | ENSP00000362513.3:p.= | |

ENST00000373424.5:c.281-2A>G | ENSP00000362523.1:p.= | |

ENST00000373426.3:n.1076-2A>G | ENSP00000362525.3:p.= | |

ENST00000373445.1:c.1076-2A>G | ENSP00000362544.1:p.= | |

ENST00000373450.4:c.1076-2A>G | ENSP00000362549.4:p.= | |

ENST00000406651.1:c.281-2A>G | ENSP00000386107.1:p.= | |

ENST00000446481.6:c.281-2A>G | ENSP00000401541.1:p.= | |

ENST00000450233.1:n.1088-2A>G | ENSP00000408608.1:p.= | |

ENST00000482026.5:c.1088-2A>G | ENSP00000418532.1:p.= | |

NM_000463.2:c.1085-2A>G , LRG_733t1:c.1085-2A>G (UGT1A1) | NP_000454.1:p.= | |

NM_001072.3:c.1082-2A>G (UGT1A6) | NP_001063.2:p.= | |

NM_007120.2:c.1088-2A>G (UGT1A4) | NP_009051.1:p.= | |

NM_019075.2:c.1076-2A>G (UGT1A10) | NP_061948.1:p.= | |

NM_019076.4:c.1076-2A>G (UGT1A8) | NP_061949.3:p.= | |

NM_019077.2:n.1076-2A>G (UGT1A7) | NP_061950.2:p.= | |

NM_019078.1:n.1088-2A>G (UGT1A5) | NP_061951.1:p.= | |

NM_019093.2:n.1088-2A>G (UGT1A3) | NP_061966.1:p.= | |

NM_021027.2:c.1076-2A>G (UGT1A9) | NP_066307.1:p.= | |

NM_205862.1:c.281-2A>G (UGT1A6) | NP_995584.1:p.= | |

NM_001072.4:c.1082-2A>G (UGT1A6) MANE Select | NP_001063.2:p.= | |

NM_021027.3:c.1076-2A>G (UGT1A9) MANE Select | NP_066307.1:p.= | |

NM_000463.3:c.1085-2A>G (UGT1A1) MANE Select | NP_000454.1:p.= | |

NM_007120.3:c.1088-2A>G (UGT1A4) MANE Select | NP_009051.1:p.= | |

NM_019093.4:c.1088-2A>G (UGT1A3) MANE Select | NP_061966.1:p.= | |

NM_205862.2:c.281-2A>G (UGT1A6) | NP_995584.1:p.= | |

NM_019075.4:c.1076-2A>G (UGT1A10) | NP_061948.1:p.= | |

NM_019076.5:c.1076-2A>G (UGT1A8) MANE Select | NP_061949.3:p.= | |

NM_019077.3:c.1076-2A>G (UGT1A7) MANE Select | NP_061950.2:p.= | |

NM_019078.2:c.1088-2A>G (UGT1A5) MANE Select | NP_061951.1:p.= | |

NM_205862.3:c.281-2A>G (UGT1A6) | NP_995584.1:p.= |