gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22621521 (NFE)
Genomes Max Group AF
0.22621521 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27584547G>A , CM000670.2:g.27584547G>A | GRCh38 |
| NC_000008.10:g.27442064G>A , CM000670.1:g.27442064G>A | GRCh37 |
| NC_000008.9:g.27497981G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000454030.1:n.305-1413G>A (GULOP) | ||
| XR_001745491.1:n.1648-7786G>A (EPHX2) |