gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13578966 (AFR)
Genomes Max Group AF
0.13578966 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149756186C>T , CM000663.2:g.149756186C>T | GRCh38 |
| NC_000001.10:g.149727736C>T , CM000663.1:g.149727736C>T | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006711337.2:c.*87G>A | XP_006711400.1:n.*87G>A |