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

NC_000010.11:g.121517318C>A , CM000672.2:g.121517318C>A | GRCh38 |

NC_000010.10:g.123276832C>A , CM000672.1:g.123276832C>A | GRCh37 |

NC_000010.9:g.123266822C>A | NCBI36 |

NG_012449.1:g.86141G>T | |

NG_012449.2:g.86141G>T |

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

ENST00000358487.10:c.1084+1G>T MANE Select | ENSP00000351276.6:p.= | |

ENST00000336553.10:c.817+1G>T | ENSP00000337665.6:p.= | |

ENST00000346997.6:c.1084+1G>T | ENSP00000263451.5:p.= | |

ENST00000351936.10:c.1090+1G>T | ENSP00000309878.9:p.= | |

ENST00000356226.8:c.739+1G>T | ENSP00000348559.4:p.= | |

ENST00000357555.9:c.817+1G>T | ENSP00000350166.5:p.= | |

ENST00000358487.9:c.1084+1G>T | ENSP00000351276.5:p.= | |

ENST00000360144.7:c.820+1364G>T | ENSP00000353262.3:p.= | |

ENST00000369056.5:c.1087+1364G>T | ENSP00000358052.1:p.= | |

ENST00000369058.7:c.1087+1364G>T | ENSP00000358054.3:p.= | |

ENST00000369059.5:c.742+1364G>T | ENSP00000358055.1:p.= | |

ENST00000369060.8:c.939+2661G>T | ENSP00000358056.4:p.= | |

ENST00000369061.8:c.749-1999G>T | ENSP00000358057.4:p.= | |

ENST00000457416.6:c.1087+1364G>T | ENSP00000410294.2:p.= | |

ENST00000463870.5:n.293+1G>T | ||

ENST00000478859.5:c.400+1G>T | ENSP00000474011.1:p.= | |

ENST00000604236.5:c.*131+1G>T | ENSP00000474109.1:p.= | |

ENST00000613048.4:c.817+1G>T | ENSP00000484154.1:p.= | |

NM_000141.4:c.1084+1G>T | NP_000132.3:p.= | |

NM_001144913.1:c.1087+1364G>T | NP_001138385.1:p.= | |

NM_001144914.1:c.749-1999G>T | NP_001138386.1:p.= | |

NM_001144915.1:c.817+1G>T | NP_001138387.1:p.= | |

NM_001144916.1:c.739+1G>T | NP_001138388.1:p.= | |

NM_001144917.1:c.939+2661G>T | NP_001138389.1:p.= | |

NM_001144918.1:c.739+1G>T | NP_001138390.1:p.= | |

NM_001144919.1:c.820+1364G>T | NP_001138391.1:p.= | |

NM_022970.3:c.1087+1364G>T | NP_075259.4:p.= | |

NM_023029.2:c.817+1G>T | NP_075418.1:p.= | |

NR_073009.1:n.1534+1G>T | ||

XM_006717708.2:c.1144+1364G>T | XP_006717771.1:p.= | |

XM_006717709.2:c.1141+1G>T | XP_006717772.1:p.= | |

XM_006717710.2:c.1144+1364G>T | XP_006717773.1:p.= | |

XM_006717711.2:c.877+1364G>T | XP_006717774.1:p.= | |

XM_006717712.2:c.799+1364G>T | XP_006717775.1:p.= | |

XM_006717713.2:c.1141+1G>T | XP_006717776.1:p.= | |

XM_011539510.1:c.400+1G>T | XP_011537812.1:p.= | |

NM_001320654.1:c.400+1G>T | NP_001307583.1:p.= | |

NM_001320658.1:c.1084+1G>T | NP_001307587.1:p.= | |

XM_006717708.3:c.1144+1364G>T | XP_006717771.1:p.= | |

XM_006717710.4:c.1144+1364G>T | XP_006717773.1:p.= | |

XM_017015920.2:c.1144+1364G>T | XP_016871409.1:p.= | |

XM_017015921.2:c.1141+1G>T | XP_016871410.1:p.= | |

XM_017015924.2:c.796+1G>T | XP_016871413.1:p.= | |

XM_017015925.2:c.796+1G>T | XP_016871414.1:p.= | |

XM_024447887.1:c.874+1G>T | XP_024303655.1:p.= | |

XM_024447888.1:c.877+1364G>T | XP_024303656.1:p.= | |

XM_024447889.1:c.874+1G>T | XP_024303657.1:p.= | |

XM_024447890.1:c.877+1364G>T | XP_024303658.1:p.= | |

XM_024447891.1:c.799+1364G>T | XP_024303659.1:p.= | |

XM_024447892.1:c.-87+1G>T | XP_024303660.1:p.= | |

NM_000141.5:c.1084+1G>T MANE Select | NP_000132.3:p.= | |

NM_001144917.2:c.939+2661G>T | NP_001138389.1:p.= | |

NM_001144918.2:c.739+1G>T | NP_001138390.1:p.= | |

NM_001144919.2:c.820+1364G>T | NP_001138391.1:p.= | |

NM_001320658.2:c.1084+1G>T | NP_001307587.1:p.= | |

NR_073009.2:n.1520+1G>T | ||

NM_001144915.2:c.817+1G>T | NP_001138387.1:p.= | |

NM_001144916.2:c.739+1G>T | NP_001138388.1:p.= | |

NM_001320654.2:c.400+1G>T | NP_001307583.1:p.= |