Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12363654T>C , CM000686.2:g.12363654T>C | GRCh38 |
| NC_000024.9:g.14484385T>C , CM000686.1:g.14484385T>C | GRCh37 |
| NC_000024.8:g.12994393T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443820.2:n.193+1280T>C (ARSDP1) | ||
| ENST00000651802.1:n.450+42730A>G (GYG2P1) | ||
| ENST00000651835.1:n.319+43142A>G (GYG2P1) | ||
| ENST00000382966.5:n.284-8883A>G (GYG2P1) | ||
| ENST00000443820.1:n.193+1280T>C (ARSDP1) | ||
| XR_001756060.1:n.59A>G |