New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.

This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

This migration is underway but taking longer than originally estimated.

gnomAD v4:
14-94378411-C-A

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

NC_000014.9:g.94378411C>A , CM000676.2:g.94378411C>A | GRCh38 |

NC_000014.8:g.94844748C>A , CM000676.1:g.94844748C>A | GRCh37 |

NC_000014.7:g.93914501C>A | NCBI36 |

NG_008290.1:g.17282G>T |

HGVS | Amino-acid Change | |
---|---|---|

ENST00000393087.9:c.*38G>T MANE Select | ENSP00000376802.4:n.*38G>T | |

ENST00000636712.1:c.*38G>T | ENSP00000490054.1:n.*38G>T | |

ENST00000355814.8:c.*38G>T | ENSP00000348068.4:n.*38G>T | |

ENST00000393087.8:c.*38G>T | ENSP00000376802.4:n.*38G>T | |

ENST00000393088.8:c.*38G>T | ENSP00000376803.4:n.*38G>T | |

ENST00000404814.8:c.*38G>T | ENSP00000385960.4:n.*38G>T | |

ENST00000437397.5:c.*38G>T | ENSP00000408474.1:n.*38G>T | |

ENST00000440909.5:c.*38G>T | ENSP00000390299.1:n.*38G>T | |

ENST00000448921.5:c.*38G>T | ENSP00000416066.1:n.*38G>T | |

ENST00000489769.1:c.*594G>T | ENSP00000451525.1:n.*594G>T | |

NM_000295.4:c.*38G>T | NP_000286.3:n.*38G>T | |

NM_001002235.2:c.*38G>T | NP_001002235.1:n.*38G>T | |

NM_001002236.2:c.*38G>T | NP_001002236.1:n.*38G>T | |

NM_001127700.1:c.*38G>T | NP_001121172.1:n.*38G>T | |

NM_001127701.1:c.*38G>T | NP_001121173.1:n.*38G>T | |

NM_001127702.1:c.*38G>T | NP_001121174.1:n.*38G>T | |

NM_001127703.1:c.*38G>T | NP_001121175.1:n.*38G>T | |

NM_001127704.1:c.*38G>T | NP_001121176.1:n.*38G>T | |

NM_001127705.1:c.*38G>T | NP_001121177.1:n.*38G>T | |

NM_001127706.1:c.*38G>T | NP_001121178.1:n.*38G>T | |

NM_001127707.1:c.*38G>T | NP_001121179.1:n.*38G>T | |

XM_017021370.1:c.*38G>T | XP_016876859.1:n.*38G>T | |

NM_000295.5:c.*38G>T MANE Select | NP_000286.3:n.*38G>T | |

NM_001002235.3:c.*38G>T | NP_001002235.1:n.*38G>T | |

NM_001002236.3:c.*38G>T | NP_001002236.1:n.*38G>T | |

NM_001127700.2:c.*38G>T | NP_001121172.1:n.*38G>T | |

NM_001127701.2:c.*38G>T | NP_001121173.1:n.*38G>T | |

NM_001127702.2:c.*38G>T | NP_001121174.1:n.*38G>T | |

NM_001127703.2:c.*38G>T | NP_001121175.1:n.*38G>T | |

NM_001127704.2:c.*38G>T | NP_001121176.1:n.*38G>T | |

NM_001127705.2:c.*38G>T | NP_001121177.1:n.*38G>T | |

NM_001127706.2:c.*38G>T | NP_001121178.1:n.*38G>T | |

NM_001127707.2:c.*38G>T | NP_001121179.1:n.*38G>T |