Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12379798T>C , CM000686.2:g.12379798T>C | GRCh38 |
| NC_000024.9:g.14491601T>C , CM000686.1:g.14491601T>C | GRCh37 |
| NC_000024.8:g.13001609T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382965.3:n.317-1049A>G (GYG2P1) | ||
| ENST00000689264.1:n.402-1049A>G (GYG2P1) | ||
| ENST00000443820.2:n.989+1976T>C (ARSDP1) | ||
| ENST00000651802.1:n.450+26586A>G (GYG2P1) | ||
| ENST00000651835.1:n.319+26998A>G (GYG2P1) | ||
| ENST00000382966.5:n.284-25027A>G (GYG2P1) | ||
| ENST00000443820.1:n.438-2538T>C (ARSDP1) | ||
| XR_001756061.1:n.609-1049A>G |