gnomAD v4:
5-112828873-G-T

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

NC_000005.10:g.112828873G>T , CM000667.2:g.112828873G>T | GRCh38 |

NC_000005.9:g.112164570G>T , CM000667.1:g.112164570G>T | GRCh37 |

NC_000005.8:g.112192469G>T | NCBI36 |

NG_008481.4:g.141353G>T , LRG_130:g.141353G>T |

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

ENST00000502371.3:c.1409-6078G>T | ENSP00000484935.2:n.1409-6078G>T | |

ENST00000504915.3:c.1698G>T | ENSP00000473355.2:p.Leu566Phe | |

ENST00000505084.2:n.1700G>T | ||

ENST00000505350.2:c.*1650G>T | ENSP00000481752.1:n.*1650G>T | |

ENST00000507379.6:c.1590G>T | ENSP00000423224.2:p.Leu530Phe | |

ENST00000509732.6:c.1644G>T | ENSP00000426541.2:p.Leu548Phe | |

ENST00000512211.7:c.1644G>T | ENSP00000423828.3:p.Leu548Phe | |

ENST00000257430.9:c.1644G>T MANE Select | ENSP00000257430.4:p.Leu548Phe | |

ENST00000257430.8:c.1644G>T | ENSP00000257430.4:p.Leu548Phe | |

ENST00000502371.2:c.97-6078G>T | ||

ENST00000504915.2:c.333G>T | ENSP00000473355.1:p.Leu111Phe | |

ENST00000505084.1:n.131G>T | ||

ENST00000507379.5:c.1590G>T | ENSP00000423224.1:p.Leu530Phe | |

ENST00000508376.6:c.1644G>T | ENSP00000427089.2:p.Leu548Phe | |

ENST00000508624.5:c.*966G>T | ENSP00000424265.1:n.*966G>T | |

ENST00000512211.6:c.1644G>T | ENSP00000423828.2:p.Leu548Phe | |

ENST00000520401.1:c.131G>T | ||

NM_000038.5:c.1644G>T | NP_000029.2:p.Leu548Phe | |

NM_001127510.2:c.1644G>T | NP_001120982.1:p.Leu548Phe | |

NM_001127511.2:c.1590G>T | NP_001120983.2:p.Leu530Phe | |

NM_001354895.1:c.1644G>T | NP_001341824.1:p.Leu548Phe | |

NM_001354896.1:c.1698G>T | NP_001341825.1:p.Leu566Phe | |

NM_001354897.1:c.1674G>T | NP_001341826.1:p.Leu558Phe | |

NM_001354898.1:c.1569G>T | NP_001341827.1:p.Leu523Phe | |

NM_001354899.1:c.1560G>T | NP_001341828.1:p.Leu520Phe | |

NM_001354900.1:c.1521G>T | NP_001341829.1:p.Leu507Phe | |

NM_001354901.1:c.1467G>T | NP_001341830.1:p.Leu489Phe | |

NM_001354902.1:c.1371G>T | NP_001341831.1:p.Leu457Phe | |

NM_001354903.1:c.1341G>T | NP_001341832.1:p.Leu447Phe | |

NM_001354904.1:c.1266G>T | NP_001341833.1:p.Leu422Phe | |

NM_001354905.1:c.1164G>T | NP_001341834.1:p.Leu388Phe | |

NM_001354906.1:c.795G>T | NP_001341835.1:p.Leu265Phe | |

NM_000038.6:c.1644G>T MANE Select | NP_000029.2:p.Leu548Phe | |

NM_001127510.3:c.1644G>T | NP_001120982.1:p.Leu548Phe | |

NM_001127511.3:c.1590G>T | NP_001120983.2:p.Leu530Phe | |

NM_001354895.2:c.1644G>T | NP_001341824.1:p.Leu548Phe | |

NM_001354896.2:c.1698G>T | NP_001341825.1:p.Leu566Phe | |

NM_001354897.2:c.1674G>T | NP_001341826.1:p.Leu558Phe | |

NM_001354898.2:c.1569G>T | NP_001341827.1:p.Leu523Phe | |

NM_001354899.2:c.1560G>T | NP_001341828.1:p.Leu520Phe | |

NM_001354900.2:c.1521G>T | NP_001341829.1:p.Leu507Phe | |

NM_001354901.2:c.1467G>T | NP_001341830.1:p.Leu489Phe | |

NM_001354902.2:c.1371G>T | NP_001341831.1:p.Leu457Phe | |

NM_001354903.2:c.1341G>T | NP_001341832.1:p.Leu447Phe | |

NM_001354904.2:c.1266G>T | NP_001341833.1:p.Leu422Phe | |

NM_001354905.2:c.1164G>T | NP_001341834.1:p.Leu388Phe | |

NM_001354906.2:c.795G>T | NP_001341835.1:p.Leu265Phe |