gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.50988278 (SAS)
Genomes Max Group AF
0.50988278 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32373576G>A , CM000668.2:g.32373576G>A | GRCh38 |
| NC_000006.11:g.32341353G>A , CM000668.1:g.32341353G>A | GRCh37 |
| NC_000006.10:g.32449331G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011515039.1:c.481+7737G>A | XP_011513341.1:n.481+7737G>A | |
| XM_011515040.1:c.481+7737G>A | XP_011513342.1:n.481+7737G>A | |
| NR_136244.1:n.500+7737G>A | ||
| NR_136245.1:n.302+7737G>A |