gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38656795 (AFR)
Genomes Max Group AF
0.38432612 (AFR)
Exomes Max Group AF
0.38731293 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203186870G>A , CM000663.2:g.203186870G>A | GRCh38 |
| NC_000001.10:g.203155998G>A , CM000663.1:g.203155998G>A | GRCh37 |
| NC_000001.9:g.201422621G>A | NCBI36 |
| NG_013056.1:g.4925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011509105.1:c.-247C>T | XP_011507407.1:n.-247C>T | |
| XM_011509106.1:c.-247C>T | XP_011507408.1:n.-247C>T | |
| XM_011509108.1:c.-247C>T | XP_011507410.1:n.-247C>T |