gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.25264054 (AFR)
Genomes Max Group AF
0.25264054 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.98529676G>A , CM000677.2:g.98529676G>A | GRCh38 |
| NC_000015.9:g.99072905G>A , CM000677.1:g.99072905G>A | GRCh37 |
| NC_000015.8:g.96890428G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000637259.1:n.575-9287C>T | ||
| XR_932700.1:n.369-9290C>T |