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

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

gnomAD v4:
5-96786418-C-A

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

NC_000005.10:g.96786418C>A , CM000667.2:g.96786418C>A | GRCh38 |

NC_000005.9:g.96122122C>A , CM000667.1:g.96122122C>A | GRCh37 |

NC_000005.8:g.96147878C>A | NCBI36 |

NG_027839.1:g.32727G>T | |

NG_027839.2:g.154566G>T |

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

ENST00000443439.7:c.1759+52G>T MANE Select | ENSP00000406304.2:n.1759+52G>T | |

ENST00000296754.7:c.1759+52G>T | ENSP00000296754.3:n.1759+52G>T | |

ENST00000443439.6:c.1759+52G>T | ENSP00000406304.2:n.1759+52G>T | |

ENST00000507859.1:n.422+52G>T | ||

ENST00000514604.5:n.183+52G>T | ||

NM_001040458.1:c.1759+52G>T | NP_001035548.1:n.1759+52G>T | |

NM_001198541.1:c.1759+52G>T | NP_001185470.1:n.1759+52G>T | |

NM_016442.3:c.1759+52G>T | NP_057526.3:n.1759+52G>T | |

XM_005272015.3:c.1759+52G>T | XP_005272072.1:n.1759+52G>T | |

XM_005272016.3:c.1759+52G>T | XP_005272073.1:n.1759+52G>T | |

XM_011543480.1:c.1759+52G>T | XP_011541782.1:n.1759+52G>T | |

XM_011543481.1:c.1759+52G>T | XP_011541783.1:n.1759+52G>T | |

XM_011543482.1:c.1759+52G>T | XP_011541784.1:n.1759+52G>T | |

XM_011543483.1:c.1759+52G>T | XP_011541785.1:n.1759+52G>T | |

XM_011543484.1:c.1759+52G>T | XP_011541786.1:n.1759+52G>T | |

XM_011543485.1:c.1759+52G>T | XP_011541787.1:n.1759+52G>T | |

XM_011543486.1:c.1759+52G>T | XP_011541788.1:n.1759+52G>T | |

XM_011543487.1:c.1759+52G>T | XP_011541789.1:n.1759+52G>T | |

NM_001040458.2:c.1759+52G>T | NP_001035548.1:n.1759+52G>T | |

NM_001198541.2:c.1759+52G>T | NP_001185470.1:n.1759+52G>T | |

NM_001349244.1:c.1759+52G>T | NP_001336173.1:n.1759+52G>T | |

NM_016442.4:c.1759+52G>T | NP_057526.3:n.1759+52G>T | |

XM_005272015.5:c.1759+52G>T | XP_005272072.1:n.1759+52G>T | |

XM_005272016.4:c.1759+52G>T | XP_005272073.1:n.1759+52G>T | |

XM_011543480.2:c.1759+52G>T | XP_011541782.1:n.1759+52G>T | |

XM_011543481.2:c.1759+52G>T | XP_011541783.1:n.1759+52G>T | |

XM_011543484.2:c.1759+52G>T | XP_011541786.1:n.1759+52G>T | |

XM_011543485.2:c.1759+52G>T | XP_011541787.1:n.1759+52G>T | |

XM_011543486.3:c.1759+52G>T | XP_011541788.1:n.1759+52G>T | |

XM_017009581.1:c.1759+52G>T | XP_016865070.1:n.1759+52G>T | |

XM_017009583.2:c.664+52G>T | XP_016865072.1:n.664+52G>T | |

XM_024446113.1:c.1759+52G>T | XP_024301881.1:n.1759+52G>T | |

XR_001742119.2:n.1897+52G>T | ||

NM_001040458.3:c.1759+52G>T MANE Select | NP_001035548.1:n.1759+52G>T | |

NM_001198541.3:c.1759+52G>T | NP_001185470.1:n.1759+52G>T | |

NM_001349244.2:c.1759+52G>T | NP_001336173.1:n.1759+52G>T | |

NM_016442.5:c.1759+52G>T | NP_057526.3:n.1759+52G>T |