gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186848939A>T , CM000665.2:g.186848939A>T | GRCh38 |
| NC_000003.11:g.186566728A>T , CM000665.1:g.186566728A>T | GRCh37 |
| NC_000003.10:g.188049422A>T | NCBI36 |
| NG_021140.1:g.11266A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320741.7:c.-8-4112A>T MANE Select | ENSP00000320709.2:n.-8-4112A>T | |
| ENST00000320741.6:c.-8-4112A>T | ENSP00000320709.2:n.-8-4112A>T | |
| ENST00000444204.2:c.-9+3332A>T | ENSP00000389814.2:n.-9+3332A>T | |
| NM_001177800.1:c.-9+3332A>T | NP_001171271.1:n.-9+3332A>T | |
| NM_004797.3:c.-8-4112A>T | NP_004788.1:n.-8-4112A>T | |
| XM_011513324.1:c.-124-2167A>T | XP_011511626.1:n.-124-2167A>T | |
| NM_004797.4:c.-8-4112A>T MANE Select | NP_004788.1:n.-8-4112A>T | |
| NM_001177800.2:c.-9+3332A>T | NP_001171271.1:n.-9+3332A>T |