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

NC_000004.12:g.113027634A>G , CM000666.2:g.113027634A>G | GRCh38 |

NC_000004.11:g.113948790A>G , CM000666.1:g.113948790A>G | GRCh37 |

NC_000004.10:g.114168239A>G | NCBI36 |

NG_009006.2:g.214552A>G , LRG_327:g.214552A>G |

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

ENST00000503271.5:c.21+123120A>G | ENSP00000423799.1:p.= | |

ENST00000503423.5:c.21+123120A>G | ENSP00000421011.1:p.= | |

ENST00000506722.5:c.21+123120A>G | ENSP00000421067.1:p.= | |

NM_001127493.1:c.21+123120A>G , LRG_327t2:c.21+123120A>G | NP_001120965.1:p.= | |

XM_011531891.1:c.21+123120A>G | XP_011530193.1:p.= | |

NM_001127493.2:c.21+123120A>G | NP_001120965.1:p.= | |

NM_001354239.1:c.21+123120A>G | NP_001341168.1:p.= | |

NM_001354243.1:c.21+123120A>G | NP_001341172.1:p.= | |

NM_001354244.1:c.21+123120A>G | NP_001341173.1:p.= | |

NM_001354249.1:c.21+123120A>G | NP_001341178.1:p.= | |

NM_001354252.1:c.21+123120A>G | NP_001341181.1:p.= | |

NM_001354253.1:c.21+123120A>G | NP_001341182.1:p.= | |

NM_001354254.1:c.21+123120A>G | NP_001341183.1:p.= | |

NM_001354255.1:c.21+123120A>G | NP_001341184.1:p.= | |

NM_001354256.1:c.21+123120A>G | NP_001341185.1:p.= | |

NM_001354257.1:c.21+123120A>G | NP_001341186.1:p.= | |

NM_001354260.1:c.21+123120A>G | NP_001341189.1:p.= | |

NM_001354261.1:c.21+123120A>G | NP_001341190.1:p.= | |

NM_001354262.1:c.21+123120A>G | NP_001341191.1:p.= | |

NM_001354264.1:c.21+123120A>G | NP_001341193.1:p.= | |

NM_001354266.1:c.21+123120A>G | NP_001341195.1:p.= | |

NM_001354267.1:c.21+123120A>G | NP_001341196.1:p.= | |

NM_001354269.1:c.73-146782A>G | NP_001341198.1:p.= | |

NM_001354270.1:c.21+123120A>G | NP_001341199.1:p.= | |

NM_001354271.1:c.21+123120A>G | NP_001341200.1:p.= | |

NM_001354272.1:c.21+123120A>G | NP_001341201.1:p.= | |

NM_001354274.1:c.21+123120A>G | NP_001341203.1:p.= | |

NM_001354275.1:c.21+123120A>G | NP_001341204.1:p.= | |

NM_001354276.1:c.21+123120A>G | NP_001341205.1:p.= | |

NM_001354277.1:c.21+123120A>G | NP_001341206.1:p.= | |

XM_017008071.2:c.21+123120A>G | XP_016863560.1:p.= | |

XM_017008072.2:c.21+123120A>G | XP_016863561.1:p.= | |

XM_017008074.2:c.21+123120A>G | XP_016863563.1:p.= | |

XM_017008075.2:c.21+123120A>G | XP_016863564.1:p.= | |

XM_017008077.2:c.21+123120A>G | XP_016863566.1:p.= | |

XM_017008080.2:c.21+123120A>G | XP_016863569.1:p.= | |

NM_001127493.3:c.21+123120A>G | NP_001120965.1:p.= | |

NM_001354239.2:c.21+123120A>G | NP_001341168.1:p.= | |

NM_001354243.2:c.21+123120A>G | NP_001341172.1:p.= | |

NM_001354244.2:c.21+123120A>G | NP_001341173.1:p.= | |

NM_001354249.2:c.21+123120A>G | NP_001341178.1:p.= | |

NM_001354252.2:c.21+123120A>G | NP_001341181.1:p.= | |

NM_001354253.2:c.21+123120A>G | NP_001341182.1:p.= | |

NM_001354254.2:c.21+123120A>G | NP_001341183.1:p.= | |

NM_001354255.2:c.21+123120A>G | NP_001341184.1:p.= | |

NM_001354256.2:c.21+123120A>G | NP_001341185.1:p.= | |

NM_001354257.2:c.21+123120A>G | NP_001341186.1:p.= | |

NM_001354260.2:c.21+123120A>G | NP_001341189.1:p.= | |

NM_001354261.2:c.21+123120A>G | NP_001341190.1:p.= | |

NM_001354262.2:c.21+123120A>G | NP_001341191.1:p.= | |

NM_001354264.2:c.21+123120A>G | NP_001341193.1:p.= | |

NM_001354266.2:c.21+123120A>G | NP_001341195.1:p.= | |

NM_001354267.2:c.21+123120A>G | NP_001341196.1:p.= | |

NM_001354269.3:c.73-146782A>G | NP_001341198.1:p.= | |

NM_001354270.2:c.21+123120A>G | NP_001341199.1:p.= | |

NM_001354271.2:c.21+123120A>G | NP_001341200.1:p.= | |

NM_001354272.2:c.21+123120A>G | NP_001341201.1:p.= | |

NM_001354274.2:c.21+123120A>G | NP_001341203.1:p.= | |

NM_001354275.2:c.21+123120A>G | NP_001341204.1:p.= | |

NM_001354276.2:c.21+123120A>G | NP_001341205.1:p.= | |

NM_001354277.2:c.21+123120A>G | NP_001341206.1:p.= | |

NM_001386142.1:c.21+123120A>G | NP_001373071.1:p.= | |

NM_001386143.1:c.21+123120A>G | NP_001373072.1:p.= | |

NM_001386146.1:c.21+123120A>G | NP_001373075.1:p.= | |

NM_001386147.1:c.21+123120A>G | NP_001373076.1:p.= | |

NM_001386148.2:c.73-146782A>G | NP_001373077.1:p.= | |

NM_001386149.1:c.21+123120A>G | NP_001373078.1:p.= | |

NM_001386150.1:c.21+123120A>G | NP_001373079.1:p.= | |

NM_001386151.1:c.21+123120A>G | NP_001373080.1:p.= | |

NM_001386153.1:c.21+123120A>G | NP_001373082.1:p.= | |

NM_001386154.1:c.21+123120A>G | NP_001373083.1:p.= | |

NM_001386156.1:c.21+123120A>G | NP_001373085.1:p.= | |

NM_001386157.1:c.21+123120A>G | NP_001373086.1:p.= | |

NM_001386158.1:c.21+123120A>G | NP_001373087.1:p.= | |

NM_001386160.1:c.21+123120A>G | NP_001373089.1:p.= | |

NM_001386161.1:c.21+123120A>G | NP_001373090.1:p.= | |

NM_001386162.1:c.21+123120A>G | NP_001373091.1:p.= | |

NM_001386186.2:c.73-146782A>G | NP_001373115.1:p.= | |

NM_001386187.2:c.73-146782A>G | NP_001373116.1:p.= |