gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32996906 (SAS)
Genomes Max Group AF
0.27369624 (SAS)
Exomes Max Group AF
0.33208553 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12387195C>T , CM000686.2:g.12387195C>T | GRCh38 |
| NC_000024.9:g.14498990C>T , CM000686.1:g.14498990C>T | GRCh37 |
| NC_000024.8:g.13008998C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-8446G>A (GYG2P1) | ||
| ENST00000689264.1:n.402-8446G>A (GYG2P1) | ||
| ENST00000443820.2:n.1634C>T (ARSDP1) | ||
| ENST00000651802.1:n.450+19189G>A (GYG2P1) | ||
| ENST00000651835.1:n.319+19601G>A (GYG2P1) | ||
| ENST00000382966.5:n.283+19601G>A (GYG2P1) | ||
| ENST00000443820.1:n.1082C>T (ARSDP1) | ||
| ENST00000493160.5:n.803-3865G>A (GYG2P1) | ||
| XR_001756061.1:n.609-8446G>A |