gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04118742 (EAS)
Genomes Max Group AF
0.02936268 (EAS)
Exomes Max Group AF
0.0435486 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12379868T>C , CM000686.2:g.12379868T>C | GRCh38 |
| NC_000024.9:g.14491671T>C , CM000686.1:g.14491671T>C | GRCh37 |
| NC_000024.8:g.13001679T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382965.3:n.317-1119A>G (GYG2P1) | ||
| ENST00000689264.1:n.402-1119A>G (GYG2P1) | ||
| ENST00000443820.2:n.989+2046T>C (ARSDP1) | ||
| ENST00000651802.1:n.450+26516A>G (GYG2P1) | ||
| ENST00000651835.1:n.319+26928A>G (GYG2P1) | ||
| ENST00000382966.5:n.284-25097A>G (GYG2P1) | ||
| ENST00000443820.1:n.438-2468T>C (ARSDP1) | ||
| XR_001756061.1:n.609-1119A>G |