dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.10919303 (NFE)
Genomes Max Group AF
0.10919303 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12384958G>A , CM000686.2:g.12384958G>A | GRCh38 |
| NC_000024.9:g.14496753G>A , CM000686.1:g.14496753G>A | GRCh37 |
| NC_000024.8:g.13006761G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-6209C>T (GYG2P1) | ||
| ENST00000689264.1:n.402-6209C>T (GYG2P1) | ||
| ENST00000443820.2:n.1408+528G>A (ARSDP1) | ||
| ENST00000651802.1:n.450+21426C>T (GYG2P1) | ||
| ENST00000651835.1:n.319+21838C>T (GYG2P1) | ||
| ENST00000382966.5:n.283+21838C>T (GYG2P1) | ||
| ENST00000443820.1:n.856+528G>A (ARSDP1) | ||
| ENST00000493160.5:n.803-1628C>T (GYG2P1) | ||
| XR_001756061.1:n.609-6209C>T |