gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92106611 (AFR)
Genomes Max Group AF
0.92106611 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101851531A>T , CM000665.2:g.101851531A>T | GRCh38 |
| NC_000003.11:g.101570375A>T , CM000665.1:g.101570375A>T | GRCh37 |
| NC_000003.10:g.103053065A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326151.9:c.290-554A>T | ENSP00000325593.5:n.290-554A>T | |
| ENST00000326172.9:c.290-554A>T MANE Select | ENSP00000325663.5:n.290-554A>T | |
| ENST00000394054.6:c.-11-554A>T | ENSP00000377618.2:n.-11-554A>T | |
| ENST00000461724.5:c.290-554A>T | ENSP00000418502.1:n.290-554A>T | |
| ENST00000483180.5:c.-11-554A>T | ENSP00000419800.1:n.-11-554A>T | |
| ENST00000486444.1:n.393-554A>T | ||
| ENST00000491281.1:c.-11-554A>T | ENSP00000418498.1:n.-11-554A>T | |
| NM_001005474.2:c.-11-554A>T | NP_001005474.1:n.-11-554A>T | |
| NM_031419.3:c.290-554A>T | NP_113607.1:n.290-554A>T | |
| NM_031419.4:c.290-554A>T MANE Select | NP_113607.1:n.290-554A>T | |
| NM_001005474.3:c.-11-554A>T | NP_001005474.1:n.-11-554A>T |