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