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.

dbSNP Id:
rs2128964216

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

NC_000007.14:g.55191657T>A , CM000669.2:g.55191657T>A | GRCh38 |

NC_000007.13:g.55259350T>A , CM000669.1:g.55259350T>A | GRCh37 |

NC_000007.12:g.55226844T>A | NCBI36 |

NG_007726.3:g.177626T>A , LRG_304:g.177626T>A |

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

ENST00000450046.2:c.2311-62T>A | ENSP00000413354.2:n.2311-62T>A | |

ENST00000700145.1:c.819-62T>A | ||

ENST00000275493.7:c.2470-62T>A MANE Select | ENSP00000275493.2:n.2470-62T>A | |

ENST00000275493.6:c.2470-62T>A | ENSP00000275493.2:n.2470-62T>A | |

ENST00000442591.5:c.*28+18729T>A | ENSP00000410031.1:n.*28+18729T>A | |

ENST00000454757.6:c.2335-62T>A | ENSP00000395243.3:n.2335-62T>A | |

ENST00000455089.5:c.2335-62T>A | ENSP00000415559.1:n.2335-62T>A | |

NM_005228.3:c.2470-62T>A , LRG_304t1:c.2470-62T>A | NP_005219.2:n.2470-62T>A | |

NM_001346897.1:c.2335-62T>A | NP_001333826.1:n.2335-62T>A | |

NM_001346898.1:c.2470-62T>A | NP_001333827.1:n.2470-62T>A | |

NM_001346899.1:c.2335-62T>A | NP_001333828.1:n.2335-62T>A | |

NM_001346900.1:c.2311-62T>A | NP_001333829.1:n.2311-62T>A | |

NM_001346941.1:c.1669-62T>A | NP_001333870.1:n.1669-62T>A | |

NM_005228.4:c.2470-62T>A | NP_005219.2:n.2470-62T>A | |

NM_005228.5:c.2470-62T>A MANE Select | NP_005219.2:n.2470-62T>A | |

NM_001346897.2:c.2335-62T>A | NP_001333826.1:n.2335-62T>A | |

NM_001346898.2:c.2470-62T>A | NP_001333827.1:n.2470-62T>A | |

NM_001346900.2:c.2311-62T>A | NP_001333829.1:n.2311-62T>A | |

NM_001346941.2:c.1669-62T>A | NP_001333870.1:n.1669-62T>A | |

NM_001346899.2:c.2335-62T>A | NP_001333828.1:n.2335-62T>A |