gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81267969 (AFR)
Genomes Max Group AF
0.81267969 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22719988G>T , CM000669.2:g.22719988G>T | GRCh38 |
| NC_000007.13:g.22759607G>T , CM000669.1:g.22759607G>T | GRCh37 |
| NC_000007.12:g.22726132G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650428.1:n.46+7580C>A |