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

NC_000020.11:g.34767243G>A , CM000682.2:g.34767243G>A | GRCh38 |

NC_000020.9:g.32818707G>A | NCBI36 |

NC_000020.10:g.33355046G>A , CM000682.1:g.33355046G>A | GRCh37 |

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

ENST00000359003.6:c.514+1221C>T | ENSP00000351894.2:p.= | |

ENST00000374796.6:c.514+1221C>T | ENSP00000363929.2:p.= | |

ENST00000612493.4:c.514+1221C>T | ENSP00000481177.1:p.= | |

ENST00000616167.1:c.514+1221C>T | ENSP00000481935.1:p.= | |

NM_001242539.1:c.514+1221C>T VV | NP_001229468.1:p.= | |

NM_014071.3:c.514+1221C>T VV | NP_054790.2:p.= | |

XM_006723755.2:c.514+1221C>T | XP_006723818.1:p.= | |

XM_011528721.1:c.514+1221C>T | XP_011527023.1:p.= | |

XM_011528722.1:c.514+1221C>T | XP_011527024.1:p.= | |

XM_011528723.1:c.514+1221C>T | XP_011527025.1:p.= | |

XM_011528724.1:c.514+1221C>T | XP_011527026.1:p.= | |

XM_011528725.1:c.514+1221C>T | XP_011527027.1:p.= | |

XM_011528726.1:c.514+1221C>T | XP_011527028.1:p.= | |

XM_011528727.1:c.514+1221C>T | XP_011527029.1:p.= | |

XM_011528728.1:c.514+1221C>T | XP_011527030.1:p.= | |

XM_011528729.1:c.514+1221C>T | XP_011527031.1:p.= | |

XM_011528730.1:c.514+1221C>T | XP_011527032.1:p.= | |

XM_011528731.1:c.-100+1221C>T | XP_011527033.1:p.= | |

XM_011528732.1:c.514+1221C>T | XP_011527034.1:p.= | |

XM_011528733.1:c.514+1221C>T | XP_011527035.1:p.= | |

XM_011528734.1:c.514+1221C>T | XP_011527036.1:p.= | |

XM_011528735.1:c.514+1221C>T | XP_011527037.1:p.= | |

XR_936514.1:n.785+1221C>T | ||

XR_936515.1:n.785+1221C>T | ||

NM_001242539.2:c.514+1221C>T VV | ||

NM_001318240.1:c.514+1221C>T VV | NP_001305169.1:p.= | |

NM_014071.4:c.514+1221C>T VV | ||

XM_006723755.3:c.514+1221C>T | ||

XM_011528721.3:c.514+1221C>T | ||

XM_011528726.3:c.514+1221C>T | ||

XM_011528727.3:c.514+1221C>T | ||

XM_017027739.1:c.514+1221C>T | XP_016883228.1:p.= | |

XM_017027740.2:c.514+1221C>T | XP_016883229.1:p.= | |

XM_017027741.1:c.514+1221C>T | XP_016883230.1:p.= | |

XM_017027742.2:c.514+1221C>T | XP_016883231.1:p.= | |

XM_017027743.2:c.514+1221C>T | XP_016883232.1:p.= | |

XM_017027744.2:c.514+1221C>T | XP_016883233.1:p.= | |

XM_017027745.2:c.514+1221C>T | XP_016883234.1:p.= | |

XM_017027746.1:c.514+1221C>T | XP_016883235.1:p.= | |

XM_017027747.2:c.-100+1221C>T | XP_016883236.1:p.= | |

XM_017027748.1:c.514+1221C>T | XP_016883237.1:p.= | |

XM_017027749.1:c.514+1221C>T | XP_016883238.1:p.= | |

XM_017027750.2:c.514+1221C>T | XP_016883239.1:p.= | |

XM_017027751.1:c.514+1221C>T | XP_016883240.1:p.= | |

XR_001754214.2:n.785+1221C>T | ||

XR_001754215.2:n.785+1221C>T |