gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45679638 (EAS)
Genomes Max Group AF
0.45679638 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.26442184G>A , CM000669.2:g.26442184G>A | GRCh38 |
| NC_000007.13:g.26481804G>A , CM000669.1:g.26481804G>A | GRCh37 |
| NC_000007.12:g.26448329G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011515671.1:c.336-18182G>A | XP_011513973.1:n.336-18182G>A | |
| NR_148499.1:n.630+29945G>A | ||
| NR_148500.1:n.225+29945G>A | ||
| NR_148501.1:n.508+29945G>A | ||
| NR_148502.1:n.453+43163G>A | ||
| NR_148503.1:n.630+29945G>A | ||
| NR_148504.1:n.630+29945G>A |