Protein allele requests are no longer disabled.

Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

dbSNP Id:
rs1176124038

gnomAD v2:
14-38077129-C-T

gnomAD v3:
14-37607924-C-T

gnomAD v4:
14-37607924-C-T

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

NC_000014.9:g.37607924C>T , CM000676.2:g.37607924C>T | GRCh38 |

NC_000014.8:g.38077129C>T , CM000676.1:g.38077129C>T | GRCh37 |

NC_000014.7:g.37146880C>T | NCBI36 |

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

ENST00000553443.6:c.-16+1182C>T MANE Select | ENSP00000451131.1:n.-16+1182C>T | |

ENST00000556845.1:c.-155+1182C>T | ENSP00000450572.1:n.-155+1182C>T | |

NM_001310135.1:c.33+1182C>T | NP_001297064.1:n.33+1182C>T | |

XM_011537432.1:c.33+1182C>T | XP_011535734.1:n.33+1182C>T | |

XR_943762.1:n.890+1182C>T | ||

XM_011537432.2:c.33+1182C>T | XP_011535734.1:n.33+1182C>T | |

XM_017021254.1:c.33+1182C>T | XP_016876743.1:n.33+1182C>T | |

XM_017021255.1:c.33+1182C>T | XP_016876744.1:n.33+1182C>T | |

XM_017021257.1:c.33+1182C>T | XP_016876746.1:n.33+1182C>T | |

XM_024449560.1:c.33+1182C>T | XP_024305328.1:n.33+1182C>T | |

XR_001750287.1:n.890+1182C>T | ||

XR_943762.2:n.890+1182C>T | ||

NM_001310135.2:c.33+1182C>T | NP_001297064.1:n.33+1182C>T | |

NM_001310135.3:c.33+1182C>T | NP_001297064.1:n.33+1182C>T | |

NM_001310135.5:c.-16+1182C>T MANE Select | NP_001297064.2:n.-16+1182C>T |