Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12340975A= , CM000686.2:g.12340975A= | GRCh38 |
| NC_000024.9:g.14461702A= , CM000686.1:g.14461702A= | GRCh37 |
| NC_000024.8:g.12971710A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000420443.1:n.164-201A= (ARSLP1) | |
| ENST00000651802.1:n.450+65409T= (GYG2P1) | |
| ENST00000651835.1:n.319+65821T= (GYG2P1) |