Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12365936T>C , CM000686.2:g.12365936T>C | GRCh38 |
| NC_000024.9:g.14486667T>C , CM000686.1:g.14486667T>C | GRCh37 |
| NC_000024.8:g.12996675T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000443820.2:n.194-4T>C (ARSDP1) | ||
| ENST00000651802.1:n.450+40448A>G (GYG2P1) | ||
| ENST00000651835.1:n.319+40860A>G (GYG2P1) | ||
| ENST00000382966.5:n.284-11165A>G (GYG2P1) | ||
| ENST00000443820.1:n.194-4T>C (ARSDP1) |