gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61797189 (NFE)
Genomes Max Group AF
0.61797189 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125525328G>A , CM000670.2:g.125525328G>A | GRCh38 |
| NC_000008.10:g.126537570G>A , CM000670.1:g.126537570G>A | GRCh37 |
| NC_000008.9:g.126606752G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928628.1:n.256+52014G>A | ||
| XR_001746072.1:n.583+2315G>A | ||
| XR_001746073.1:n.583+2315G>A |