Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12384315C= , CM000686.2:g.12384315C= | GRCh38 |
| NC_000024.9:g.14496118C= , CM000686.1:g.14496118C= | GRCh37 |
| NC_000024.8:g.13006126C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000382965.3:n.317-5566G= (GYG2P1) | |
| ENST00000382966.5:n.283+22481G= (GYG2P1) | |
| ENST00000443820.1:n.741C= (ARSDP1) | |
| ENST00000443820.2:n.1293C= (ARSDP1) | |
| ENST00000493160.5:n.803-985G= (GYG2P1) | |
| ENST00000651802.1:n.450+22069G= (GYG2P1) | |
| ENST00000651835.1:n.319+22481G= (GYG2P1) | |
| ENST00000689264.1:n.402-5566G= (GYG2P1) | |
| XR_001756061.1:n.609-5566G= |