The first of two essential broad service outages will occur over the weekend.

The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.

Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

dbSNP Id:
rs1385059774

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

NC_000012.12:g.24828580A>T , CM000674.2:g.24828580A>T | GRCh38 |

NC_000012.11:g.24981514A>T , CM000674.1:g.24981514A>T | GRCh37 |

NC_000012.10:g.24872781A>T | NCBI36 |

NG_008170.1:g.125795T>A | |

NG_008170.2:g.125795T>A |

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

ENST00000261192.12:c.1119+1243T>A MANE Select | ENSP00000261192.7:n.1119+1243T>A | |

ENST00000261192.11:c.1119+1243T>A | ENSP00000261192.7:n.1119+1243T>A | |

ENST00000342945.9:c.936+1243T>A | ENSP00000339805.5:n.936+1243T>A | |

ENST00000538118.5:c.1116+1243T>A | ENSP00000440817.1:n.1116+1243T>A | |

ENST00000539282.5:c.1155+1243T>A | ENSP00000443459.1:n.1155+1243T>A | |

ENST00000539780.5:c.1008+1243T>A | ENSP00000440827.1:n.1008+1243T>A | |

ENST00000543099.1:n.174+1243T>A | ||

NM_001178091.1:c.1008+1243T>A | NP_001171562.1:n.1008+1243T>A | |

NM_001178092.1:c.936+1243T>A | NP_001171563.1:n.936+1243T>A | |

NM_001178093.1:c.1155+1243T>A | NP_001171564.1:n.1155+1243T>A | |

NM_001178094.1:c.1116+1243T>A | NP_001171565.1:n.1116+1243T>A | |

NM_005504.6:c.1119+1243T>A | NP_005495.2:n.1119+1243T>A | |

XM_011520810.1:c.1155+1243T>A | XP_011519112.1:n.1155+1243T>A | |

XR_931441.1:n.1532-2121A>T | ||

XR_931442.1:n.1532-2121A>T | ||

XR_931443.1:n.1439-2121A>T | ||

XM_017019768.2:c.1221+1243T>A | XP_016875257.1:n.1221+1243T>A | |

XR_001748835.2:n.4171+1243T>A | ||

XR_001749047.1:n.3978-2121A>T | ||

XR_001749048.2:n.3978-2121A>T | ||

XR_001749049.1:n.3885-2121A>T | ||

NM_005504.7:c.1119+1243T>A MANE Select | NP_005495.2:n.1119+1243T>A | |

NM_001178091.2:c.1008+1243T>A | NP_001171562.1:n.1008+1243T>A | |

NM_001178092.2:c.936+1243T>A | NP_001171563.1:n.936+1243T>A | |

NM_001178093.2:c.1155+1243T>A | NP_001171564.1:n.1155+1243T>A | |

NM_001178094.2:c.1116+1243T>A | NP_001171565.1:n.1116+1243T>A |