dbSNP Id:
rs956995402

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

NC_000017.11:g.7674839A>T , CM000679.2:g.7674839A>T | GRCh38 |

NC_000017.10:g.7578157A>T , CM000679.1:g.7578157A>T | GRCh37 |

NC_000017.9:g.7518882A>T | NCBI36 |

NG_017013.2:g.17712T>A , LRG_321:g.17712T>A |

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

NM_000546.5:c.672+20T>A , LRG_321t1:c.672+20T>A | NP_000537.3:p.= | |

NM_001126112.2:c.672+20T>A , LRG_321t2:c.672+20T>A | NP_001119584.1:p.= | |

NM_001126113.2:c.672+20T>A , LRG_321t4:c.672+20T>A | NP_001119585.1:p.= | |

NM_001126114.2:c.672+20T>A , LRG_321t3:c.672+20T>A | NP_001119586.1:p.= | |

NM_001126115.1:c.276+20T>A , LRG_321t5:c.276+20T>A | NP_001119587.1:p.= | |

NM_001126116.1:c.276+20T>A , LRG_321t6:c.276+20T>A | NP_001119588.1:p.= | |

NM_001126117.1:c.276+20T>A , LRG_321t7:c.276+20T>A | NP_001119589.1:p.= | |

NM_001126118.1:c.555+20T>A , LRG_321t8:c.555+20T>A | NP_001119590.1:p.= | |

NM_001276695.1:c.555+20T>A VV | NP_001263624.1:p.= | |

NM_001276696.1:c.555+20T>A VV | NP_001263625.1:p.= | |

NM_001276697.1:c.195+20T>A VV | NP_001263626.1:p.= | |

NM_001276698.1:c.195+20T>A VV | NP_001263627.1:p.= | |

NM_001276699.1:c.195+20T>A VV | NP_001263628.1:p.= | |

NM_001276760.1:c.555+20T>A VV | NP_001263689.1:p.= | |

NM_001276761.1:c.555+20T>A VV | NP_001263690.1:p.= | |

NM_001276695.2:c.555+20T>A VV | NP_001263624.1:p.= | |

NM_001276696.2:c.555+20T>A VV | NP_001263625.1:p.= | |

NM_001276697.2:c.195+20T>A VV | NP_001263626.1:p.= | |

NM_001276698.2:c.195+20T>A VV | NP_001263627.1:p.= | |

NM_001276699.2:c.195+20T>A VV | NP_001263628.1:p.= | |

NM_001276760.2:c.555+20T>A VV | NP_001263689.1:p.= | |

NM_001276761.2:c.555+20T>A VV | NP_001263690.1:p.= | |

NM_000546.6:c.672+20T>A VV MANE Preferred | NP_000537.3:p.= | |

NM_001126112.3:c.672+20T>A VV | NP_001119584.1:p.= | |

NM_001126113.3:c.672+20T>A VV | NP_001119585.1:p.= | |

NM_001126114.3:c.672+20T>A VV | NP_001119586.1:p.= | |

NM_001126115.2:c.276+20T>A VV | NP_001119587.1:p.= | |

NM_001126116.2:c.276+20T>A VV | NP_001119588.1:p.= | |

NM_001126117.2:c.276+20T>A VV | NP_001119589.1:p.= | |

NM_001126118.2:c.555+20T>A VV | NP_001119590.1:p.= | |

NM_001276695.3:c.555+20T>A VV | NP_001263624.1:p.= | |

NM_001276696.3:c.555+20T>A VV | NP_001263625.1:p.= | |

NM_001276697.3:c.195+20T>A VV | NP_001263626.1:p.= | |

NM_001276698.3:c.195+20T>A VV | NP_001263627.1:p.= | |

NM_001276699.3:c.195+20T>A VV | NP_001263628.1:p.= | |

NM_001276760.3:c.555+20T>A VV | NP_001263689.1:p.= | |

NM_001276761.3:c.555+20T>A VV | NP_001263690.1:p.= | |

ENST00000269305.8:c.672+20T>A | ENSP00000269305.4:p.= | |

ENST00000359597.8:n.672+20T>A | ENSP00000352610.4:p.= | |

ENST00000413465.6:n.672+20T>A | ENSP00000410739.2:p.= | |

ENST00000420246.6:c.672+20T>A | ENSP00000391127.2:p.= | |

ENST00000445888.6:c.672+20T>A | ENSP00000391478.2:p.= | |

ENST00000455263.6:c.672+20T>A | ENSP00000398846.2:p.= | |

ENST00000504290.5:c.276+20T>A | ENSP00000484409.1:p.= | |

ENST00000504937.5:c.276+20T>A | ENSP00000481179.1:p.= | |

ENST00000505014.5:n.948T>A | ||

ENST00000509690.5:c.276+20T>A | ENSP00000425104.1:p.= | |

ENST00000510385.5:c.276+20T>A | ENSP00000478499.1:p.= | |

ENST00000514944.5:c.393+20T>A | ENSP00000423862.1:p.= | |

ENST00000574684.1:n.67+214T>A | ||

ENST00000610292.4:c.555+20T>A | ENSP00000478219.1:p.= | |

ENST00000610538.4:c.555+20T>A | ENSP00000480868.1:p.= | |

ENST00000610623.4:c.195+20T>A | ENSP00000477531.1:p.= | |

ENST00000615910.4:n.639+20T>A | ENSP00000482903.1:p.= | |

ENST00000617185.4:c.672+20T>A | ENSP00000482258.1:p.= | |

ENST00000618944.4:c.195+20T>A | ENSP00000481401.1:p.= | |

ENST00000619186.4:c.195+20T>A | ENSP00000484375.1:p.= | |

ENST00000619485.4:c.555+20T>A | ENSP00000482537.1:p.= | |

ENST00000620739.4:c.555+20T>A | ENSP00000481638.1:p.= | |

ENST00000622645.4:c.555+20T>A | ENSP00000482222.1:p.= | |

ENST00000635293.1:c.555+20T>A | ENSP00000488924.1:p.= |