gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47349546 (AFR)
Genomes Max Group AF
0.46637504 (AFR)
Exomes Max Group AF
0.47883073 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41090228A>G , CM000681.2:g.41090228A>G | GRCh38 |
| NC_000019.9:g.41596133A>G , CM000681.1:g.41596133A>G | GRCh37 |
| NC_000019.8:g.46287973A>G | NCBI36 |
| NG_007928.1:g.6766A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330436.4:c.493+32A>G MANE Select | ENSP00000332679.1:n.493+32A>G | |
| ENST00000330436.3:c.493+32A>G | ENSP00000332679.1:n.493+32A>G | |
| NM_000766.4:c.493+32A>G | NP_000757.2:n.493+32A>G | |
| NM_000766.5:c.493+32A>G MANE Select | NP_000757.2:n.493+32A>G |