gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186846014C>G , CM000665.2:g.186846014C>G | GRCh38 |
| NC_000003.11:g.186563803C>G , CM000665.1:g.186563803C>G | GRCh37 |
| NC_000003.10:g.188046497C>G | NCBI36 |
| NG_021140.1:g.8341C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320741.7:c.-9+3265C>G MANE Select | ENSP00000320709.2:n.-9+3265C>G | |
| ENST00000320741.6:c.-9+3265C>G | ENSP00000320709.2:n.-9+3265C>G | |
| ENST00000444204.2:c.-9+407C>G | ENSP00000389814.2:n.-9+407C>G | |
| NM_001177800.1:c.-9+407C>G | NP_001171271.1:n.-9+407C>G | |
| NM_004797.3:c.-9+3265C>G | NP_004788.1:n.-9+3265C>G | |
| XM_011513324.1:c.-125+3265C>G | XP_011511626.1:n.-125+3265C>G | |
| NM_004797.4:c.-9+3265C>G MANE Select | NP_004788.1:n.-9+3265C>G | |
| NM_001177800.2:c.-9+407C>G | NP_001171271.1:n.-9+407C>G |