dbSNP Id:
rs2128527859

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

NC_000006.12:g.151944326G>T , CM000668.2:g.151944326G>T | GRCh38 |

NC_000006.11:g.152265461G>T , CM000668.1:g.152265461G>T | GRCh37 |

NC_000006.10:g.152307154G>T | NCBI36 |

NG_008493.1:g.258831G>T | |

NG_008493.2:g.292636G>T |

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

ENST00000206249.8:c.914G>T MANE Select | ENSP00000206249.3:p.Ser305Ile | |

ENST00000638569.1:c.42+77G>T | ENSP00000491412.1:n.42+77G>T | |

ENST00000641399.1:n.242G>T | ||

ENST00000206249.7:c.914G>T | ENSP00000206249.3:p.Ser305Ile | |

ENST00000338799.9:c.914G>T | ENSP00000342630.5:p.Ser305Ile | |

ENST00000406599.5:c.453-116665G>T | ENSP00000384064.1:n.453-116665G>T | |

ENST00000415488.1:c.115+63555G>T | ENSP00000401995.1:n.115+63555G>T | |

ENST00000427531.6:c.395G>T | ENSP00000394721.2:p.Ser132Ile | |

ENST00000440973.5:c.914G>T | ENSP00000405330.1:p.Ser305Ile | |

ENST00000443427.5:c.914G>T | ENSP00000387500.1:p.Ser305Ile | |

ENST00000456483.3:c.*110+63555G>T | ENSP00000415934.3:n.*110+63555G>T | |

ENST00000482101.1:n.155G>T | ||

NM_000125.3:c.914G>T | NP_000116.2:p.Ser305Ile | |

NM_001122740.1:c.914G>T | NP_001116212.1:p.Ser305Ile | |

NM_001122741.1:c.914G>T | NP_001116213.1:p.Ser305Ile | |

NM_001122742.1:c.914G>T | NP_001116214.1:p.Ser305Ile | |

NM_001291230.1:c.920G>T | NP_001278159.1:p.Ser307Ile | |

NM_001291241.1:c.911G>T | NP_001278170.1:p.Ser304Ile | |

XM_006715374.2:c.914G>T | XP_006715437.1:p.Ser305Ile | |

XM_006715375.2:c.395G>T | XP_006715438.1:p.Ser132Ile | |

XM_011535543.1:c.914G>T | XP_011533845.1:p.Ser305Ile | |

XM_011535544.1:c.914G>T | XP_011533846.1:p.Ser305Ile | |

XM_011535545.1:c.914G>T | XP_011533847.1:p.Ser305Ile | |

XM_011535546.1:c.914G>T | XP_011533848.1:p.Ser305Ile | |

XM_011535547.1:c.914G>T | XP_011533849.1:p.Ser305Ile | |

XM_011535548.1:c.395G>T | XP_011533850.1:p.Ser132Ile | |

XM_011535549.1:c.185G>T | XP_011533851.1:p.Ser62Ile | |

NM_001328100.1:c.395G>T | NP_001315029.1:p.Ser132Ile | |

XM_006715374.3:c.914G>T | XP_006715437.1:p.Ser305Ile | |

XM_006715375.3:c.395G>T | XP_006715438.1:p.Ser132Ile | |

XM_011535543.2:c.914G>T | XP_011533845.1:p.Ser305Ile | |

XM_011535544.2:c.914G>T | XP_011533846.1:p.Ser305Ile | |

XM_011535545.2:c.914G>T | XP_011533847.1:p.Ser305Ile | |

XM_011535547.2:c.914G>T | XP_011533849.1:p.Ser305Ile | |

XM_011535549.2:c.185G>T | XP_011533851.1:p.Ser62Ile | |

XM_017010376.1:c.914G>T | XP_016865865.1:p.Ser305Ile | |

XM_017010377.1:c.914G>T | XP_016865866.1:p.Ser305Ile | |

XM_017010378.1:c.914G>T | XP_016865867.1:p.Ser305Ile | |

XM_017010379.1:c.914G>T | XP_016865868.1:p.Ser305Ile | |

XM_017010380.1:c.914G>T | XP_016865869.1:p.Ser305Ile | |

XM_017010381.1:c.914G>T | XP_016865870.1:p.Ser305Ile | |

XM_017010382.2:c.257G>T | XP_016865871.1:p.Ser86Ile | |

XM_017010383.1:c.125G>T | XP_016865872.1:p.Ser42Ile | |

XR_001743223.2:n.1284G>T | ||

XR_002956266.1:n.1284G>T | ||

NM_000125.4:c.914G>T MANE Select | NP_000116.2:p.Ser305Ile | |

NM_001328100.2:c.395G>T | NP_001315029.1:p.Ser132Ile | |

NM_001122740.2:c.914G>T | NP_001116212.1:p.Ser305Ile | |

NM_001122741.2:c.914G>T | NP_001116213.1:p.Ser305Ile | |

NM_001122742.2:c.914G>T | NP_001116214.1:p.Ser305Ile | |

NM_001291230.2:c.920G>T | NP_001278159.1:p.Ser307Ile | |

NM_001291241.2:c.911G>T | NP_001278170.1:p.Ser304Ile | |

NM_001385568.1:c.914G>T | NP_001372497.1:p.Ser305Ile | |

NM_001385569.1:c.914G>T | NP_001372498.1:p.Ser305Ile | |

NM_001385570.1:c.914G>T | NP_001372499.1:p.Ser305Ile | |

NM_001385571.1:c.914G>T | NP_001372500.1:p.Ser305Ile | |

NM_001385572.1:c.914G>T | NP_001372501.1:p.Ser305Ile |