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:
rs1239927548

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

NC_000003.12:g.43605681A>T , CM000665.2:g.43605681A>T | GRCh38 |

NC_000003.11:g.43647173A>T , CM000665.1:g.43647173A>T | GRCh37 |

NC_000003.10:g.43622177A>T | NCBI36 |

NG_028216.1:g.21388T>A | |

NG_028216.2:g.90914T>A |

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

ENST00000292246.8:c.139+33T>A MANE Select | ENSP00000292246.3:n.139+33T>A | |

ENST00000292246.7:c.139+33T>A | ENSP00000292246.3:n.139+33T>A | |

ENST00000350459.8:c.139+33T>A | ENSP00000327767.4:n.139+33T>A | |

ENST00000396091.7:c.139+33T>A | ENSP00000379398.3:n.139+33T>A | |

ENST00000413397.5:c.139+33T>A | ENSP00000399103.1:n.139+33T>A | |

ENST00000414522.6:c.139+33T>A | ENSP00000396990.2:n.139+33T>A | |

ENST00000427171.5:c.139+33T>A | ENSP00000406432.1:n.139+33T>A | |

ENST00000428472.5:c.139+33T>A | ENSP00000416266.1:n.139+33T>A | |

ENST00000428831.1:c.139+33T>A | ENSP00000406712.1:n.139+33T>A | |

ENST00000439141.5:c.139+33T>A | ENSP00000397360.1:n.139+33T>A | |

ENST00000444344.5:c.139+33T>A | ENSP00000402010.1:n.139+33T>A | |

ENST00000451430.6:c.139+33T>A | ENSP00000394119.2:n.139+33T>A | |

ENST00000456438.5:c.139+33T>A | ENSP00000402845.1:n.139+33T>A | |

NM_001204831.1:c.139+33T>A | NP_001191760.1:n.139+33T>A | |

NM_001204832.1:c.139+33T>A | NP_001191761.1:n.139+33T>A | |

NM_001204833.1:c.139+33T>A | NP_001191762.1:n.139+33T>A | |

NM_001204834.1:c.139+33T>A | NP_001191763.1:n.139+33T>A | |

NM_018075.3:c.139+33T>A | NP_060545.3:n.139+33T>A | |

XM_011533882.1:c.139+33T>A | XP_011532184.1:n.139+33T>A | |

XM_011533883.1:c.139+33T>A | XP_011532185.1:n.139+33T>A | |

XM_011533884.1:c.139+33T>A | XP_011532186.1:n.139+33T>A | |

XM_011533885.1:c.139+33T>A | XP_011532187.1:n.139+33T>A | |

XM_011533886.1:c.139+33T>A | XP_011532188.1:n.139+33T>A | |

XM_011533887.1:c.139+33T>A | XP_011532189.1:n.139+33T>A | |

XM_011533888.1:c.139+33T>A | XP_011532190.1:n.139+33T>A | |

XM_011533889.1:c.139+33T>A | XP_011532191.1:n.139+33T>A | |

XM_011533890.1:c.139+33T>A | XP_011532192.1:n.139+33T>A | |

NM_001204831.2:c.139+33T>A | NP_001191760.1:n.139+33T>A | |

NM_001204832.2:c.139+33T>A | NP_001191761.1:n.139+33T>A | |

NM_001204833.2:c.139+33T>A | NP_001191762.1:n.139+33T>A | |

NM_001204834.2:c.139+33T>A | NP_001191763.1:n.139+33T>A | |

NM_001346463.1:c.139+33T>A | NP_001333392.1:n.139+33T>A | |

NM_001346464.1:c.139+33T>A | NP_001333393.1:n.139+33T>A | |

NM_001346465.1:c.139+33T>A | NP_001333394.1:n.139+33T>A | |

NM_001346466.1:c.139+33T>A | NP_001333395.1:n.139+33T>A | |

NM_001346467.1:c.139+33T>A | NP_001333396.1:n.139+33T>A | |

NM_001346468.1:c.139+33T>A | NP_001333397.1:n.139+33T>A | |

NM_001346469.1:c.139+33T>A | NP_001333398.1:n.139+33T>A | |

NM_018075.4:c.139+33T>A | NP_060545.3:n.139+33T>A | |

XM_011533885.3:c.139+33T>A | XP_011532187.2:n.139+33T>A | |

XM_011533889.3:c.139+33T>A | XP_011532191.1:n.139+33T>A | |

XM_011533890.3:c.139+33T>A | XP_011532192.1:n.139+33T>A | |

XM_017006717.2:c.139+33T>A | XP_016862206.1:n.139+33T>A | |

XM_017006718.1:c.139+33T>A | XP_016862207.1:n.139+33T>A | |

XM_017006719.2:c.139+33T>A | XP_016862208.1:n.139+33T>A | |

XM_024453616.1:c.139+33T>A | XP_024309384.1:n.139+33T>A | |

XM_024453617.1:c.139+33T>A | XP_024309385.1:n.139+33T>A | |

XR_001740190.2:n.255+33T>A | ||

NM_018075.5:c.139+33T>A MANE Select | NP_060545.3:n.139+33T>A | |

NM_001204831.3:c.139+33T>A | NP_001191760.1:n.139+33T>A | |

NM_001204832.3:c.139+33T>A | NP_001191761.1:n.139+33T>A | |

NM_001204833.3:c.139+33T>A | NP_001191762.1:n.139+33T>A | |

NM_001204834.3:c.139+33T>A | NP_001191763.1:n.139+33T>A | |

NM_001346463.2:c.139+33T>A | NP_001333392.1:n.139+33T>A | |

NM_001346464.2:c.139+33T>A | NP_001333393.1:n.139+33T>A | |

NM_001346465.2:c.139+33T>A | NP_001333394.1:n.139+33T>A | |

NM_001346466.2:c.139+33T>A | NP_001333395.1:n.139+33T>A | |

NM_001346467.2:c.139+33T>A | NP_001333396.1:n.139+33T>A | |

NM_001346468.2:c.139+33T>A | NP_001333397.1:n.139+33T>A | |

NM_001346469.2:c.139+33T>A | NP_001333398.1:n.139+33T>A |