ClinVar Variation Id:
1102885

ClinVar RCV Id:
RCV001426345

MyVariant Identifiers:
chr5:g.112164561G>T (hg19)

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

NC_000005.10:g.112828864G>T , CM000667.2:g.112828864G>T | GRCh38 |

NC_000005.9:g.112164561G>T , CM000667.1:g.112164561G>T | GRCh37 |

NC_000005.8:g.112192460G>T | NCBI36 |

NG_008481.4:g.141344G>T , LRG_130:g.141344G>T |

HGVS | Amino-acid change | |
---|---|---|

ENST00000257430.9:c.1635G>T MANE Select | ENSP00000257430.4:p.Ala545= | |

ENST00000257430.8:c.1635G>T | ENSP00000257430.4:p.Ala545= | |

ENST00000502371.2:n.97-6087G>T | ||

ENST00000504915.2:n.324G>T | ENSP00000473355.1:p.Ala108= | |

ENST00000505084.1:n.122G>T | ||

ENST00000507379.5:c.1581G>T | ENSP00000423224.1:p.Ala527= | |

ENST00000508376.6:c.1635G>T | ENSP00000427089.2:p.Ala545= | |

ENST00000508624.5:c.*957G>T | ENSP00000424265.1:n.*957G>T | |

ENST00000512211.6:c.1635G>T | ENSP00000423828.2:p.Ala545= | |

ENST00000520401.1:n.122G>T | ||

NM_000038.5:c.1635G>T | NP_000029.2:p.Ala545= | |

NM_001127510.2:c.1635G>T | NP_001120982.1:p.Ala545= | |

NM_001127511.2:c.1581G>T | NP_001120983.2:p.Ala527= | |

NM_001354895.1:c.1635G>T | NP_001341824.1:p.Ala545= | |

NM_001354896.1:c.1689G>T | NP_001341825.1:p.Ala563= | |

NM_001354897.1:c.1665G>T | NP_001341826.1:p.Ala555= | |

NM_001354898.1:c.1560G>T | NP_001341827.1:p.Ala520= | |

NM_001354899.1:c.1551G>T | NP_001341828.1:p.Ala517= | |

NM_001354900.1:c.1512G>T | NP_001341829.1:p.Ala504= | |

NM_001354901.1:c.1458G>T | NP_001341830.1:p.Ala486= | |

NM_001354902.1:c.1362G>T | NP_001341831.1:p.Ala454= | |

NM_001354903.1:c.1332G>T | NP_001341832.1:p.Ala444= | |

NM_001354904.1:c.1257G>T | NP_001341833.1:p.Ala419= | |

NM_001354905.1:c.1155G>T | NP_001341834.1:p.Ala385= | |

NM_001354906.1:c.786G>T | NP_001341835.1:p.Ala262= | |

NM_000038.6:c.1635G>T MANE Select | NP_000029.2:p.Ala545= | |

NM_001127510.3:c.1635G>T | NP_001120982.1:p.Ala545= | |

NM_001127511.3:c.1581G>T | NP_001120983.2:p.Ala527= | |

NM_001354895.2:c.1635G>T | NP_001341824.1:p.Ala545= | |

NM_001354896.2:c.1689G>T | NP_001341825.1:p.Ala563= | |

NM_001354897.2:c.1665G>T | NP_001341826.1:p.Ala555= | |

NM_001354898.2:c.1560G>T | NP_001341827.1:p.Ala520= | |

NM_001354899.2:c.1551G>T | NP_001341828.1:p.Ala517= | |

NM_001354900.2:c.1512G>T | NP_001341829.1:p.Ala504= | |

NM_001354901.2:c.1458G>T | NP_001341830.1:p.Ala486= | |

NM_001354902.2:c.1362G>T | NP_001341831.1:p.Ala454= | |

NM_001354903.2:c.1332G>T | NP_001341832.1:p.Ala444= | |

NM_001354904.2:c.1257G>T | NP_001341833.1:p.Ala419= | |

NM_001354905.2:c.1155G>T | NP_001341834.1:p.Ala385= | |

NM_001354906.2:c.786G>T | NP_001341835.1:p.Ala262= |