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

NC_000002.12:g.189813819G>A , CM000664.2:g.189813819G>A | GRCh38 |

NC_000002.11:g.190678545G>A , CM000664.1:g.190678545G>A | GRCh37 |

NC_000002.10:g.190386790G>A | NCBI36 |

NG_008648.1:g.34735G>A , LRG_221:g.34735G>A |

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

ENST00000342075.8:c.316-4198G>A | ENSP00000343888.4:p.= | |

ENST00000409823.7:c.419-4198G>A | ENSP00000387125.3:p.= | |

ENST00000418224.7:c.419-4198G>A | ENSP00000404492.4:p.= | |

ENST00000424307.5:c.236-4198G>A | ENSP00000389938.1:p.= | |

ENST00000424766.5:c.419-4198G>A | ENSP00000410082.1:p.= | |

ENST00000432292.7:c.-110-4198G>A | ENSP00000398378.3:p.= | |

ENST00000441310.6:c.419-4198G>A | ENSP00000406490.2:p.= | |

ENST00000447232.6:c.419-4198G>A | ENSP00000401064.2:p.= | |

ENST00000447734.5:c.133-4198G>A | ENSP00000411151.1:p.= | |

ENST00000450931.5:c.419-4198G>A | ENSP00000406225.1:p.= | |

ENST00000618056.4:c.419-4198G>A | ENSP00000480632.1:p.= | |

ENST00000624204.3:c.-110-4198G>A | ENSP00000485312.1:p.= | |

NM_000534.4:c.419-4198G>A , LRG_221t1:c.419-4198G>A | NP_000525.1:p.= | |

NM_001128143.1:c.419-4198G>A | NP_001121615.1:p.= | |

NM_001128144.1:c.419-4198G>A | NP_001121616.1:p.= | |

NM_001289408.1:c.-110-4198G>A | NP_001276337.1:p.= | |

NM_001289409.1:c.-110-4198G>A | NP_001276338.1:p.= | |

XM_005246647.2:c.419-4198G>A | XP_005246704.1:p.= | |

XM_005246649.2:c.419-4198G>A | XP_005246706.1:p.= | |

XM_011511353.1:c.419-4198G>A | XP_011509655.1:p.= | |

XM_011511354.1:c.419-4198G>A | XP_011509656.1:p.= | |

XM_011511355.1:c.236-4198G>A | XP_011509657.1:p.= | |

XM_011511356.1:c.-111+1184G>A | XP_011509658.1:p.= | |

XM_011511357.1:c.419-4198G>A | XP_011509659.1:p.= | |

NM_001321044.1:c.419-4198G>A | NP_001307973.1:p.= | |

NM_001321045.1:c.419-4198G>A | NP_001307974.1:p.= | |

NM_001321046.1:c.236-4198G>A | NP_001307975.1:p.= | |

NM_001321047.1:c.419-4198G>A | NP_001307976.1:p.= | |

NM_001321048.1:c.419-4198G>A | NP_001307977.1:p.= | |

XM_011511356.3:c.-111+1184G>A | XP_011509658.1:p.= | |

XM_017004344.1:c.419-4198G>A | XP_016859833.1:p.= | |

XM_017004345.1:c.236-4198G>A | XP_016859834.1:p.= | |

XM_017004346.2:c.236-4198G>A | XP_016859835.1:p.= | |

XM_017004347.1:c.236-4198G>A | XP_016859836.1:p.= | |

XM_017004348.1:c.419-4198G>A | XP_016859837.1:p.= | |

XM_017004349.2:c.-111+1184G>A | XP_016859838.1:p.= | |

XM_017004350.1:c.236-4198G>A | XP_016859839.1:p.= | |

XM_024452964.1:c.419-4198G>A | XP_024308732.1:p.= | |

XM_024452965.1:c.419-4198G>A | XP_024308733.1:p.= | |

XM_024452966.1:c.419-4198G>A | XP_024308734.1:p.= | |

XM_024452967.1:c.419-4198G>A | XP_024308735.1:p.= | |

XM_024452968.1:c.-110-4198G>A | XP_024308736.1:p.= | |

XM_024452969.1:c.-110-4198G>A | XP_024308737.1:p.= | |

NM_000534.5:c.419-4198G>A MANE Select | NP_000525.1:p.= | |

NM_001128143.2:c.419-4198G>A | NP_001121615.1:p.= | |

NM_001128144.2:c.419-4198G>A | NP_001121616.1:p.= | |

NM_001321044.2:c.419-4198G>A | NP_001307973.1:p.= | |

NM_001321045.2:c.419-4198G>A | NP_001307974.1:p.= | |

NM_001321046.2:c.236-4198G>A | NP_001307975.1:p.= | |

NM_001321047.2:c.419-4198G>A | NP_001307976.1:p.= | |

NM_001321048.2:c.419-4198G>A | NP_001307977.1:p.= | |

NM_001289408.2:c.-110-4198G>A | NP_001276337.1:p.= | |

NM_001289409.2:c.-110-4198G>A | NP_001276338.1:p.= |