gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45347767 (AFR)
Genomes Max Group AF
0.45347767 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.93589778C>T , CM000674.2:g.93589778C>T | GRCh38 |
| NC_000012.11:g.93983554C>T , CM000674.1:g.93983554C>T | GRCh37 |
| NC_000012.10:g.92507685C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011538935.1:c.591+14605C>T | XP_011537237.1:n.591+14605C>T |