gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83262584 (AFR)
Genomes Max Group AF
0.81894674 (AFR)
Exomes Max Group AF
0.84451302 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129528708A>G , CM000665.2:g.129528708A>G | GRCh38 |
| NC_000003.11:g.129247551A>G , CM000665.1:g.129247551A>G | GRCh37 |
| NC_000003.10:g.130730241A>G | NCBI36 |
| NG_009115.1:g.5070A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.-26A>G MANE Select | ENSP00000296271.3:n.-26A>G | |
| ENST00000296271.3:c.-26A>G | ENSP00000296271.3:n.-26A>G | |
| NM_000539.3:c.-26A>G MANE Select | NP_000530.1:n.-26A>G |