Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19555322C>T , CM000686.2:g.19555322C>T | GRCh38 |
| NC_000024.9:g.21717208C>T , CM000686.1:g.21717208C>T | GRCh37 |
| NC_000024.8:g.20176596C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000650676.1:n.111+11660G>A | |
| ENST00000651484.1:n.1722G>A | |
| XR_001756064.2:n.1866G>A | |
| XR_001756065.1:n.1850G>A | |
| XR_001756066.1:n.1930G>A | |
| XR_938626.2:n.6696G>A | |
| XR_938627.2:n.6680G>A | |
| XR_938628.3:n.2283G>A | |
| XR_938629.1:n.4609G>A |