Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19021757G= , CM000686.2:g.19021757G= | GRCh38 |
| NC_000024.9:g.21183643G= , CM000686.1:g.21183643G= | GRCh37 |
| NC_000024.8:g.19643031G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125733.1:n.578+46967C= | ||
| NR_125734.1:n.578+46967C= | ||
| NR_125735.1:n.503+55288C= | ||
| NR_125736.1:n.138+46967C= | ||
| NR_125737.1:n.138+46967C= | ||
| NR_001543.4:n.503+55288C= | ||
| NR_125737.2:n.138+46967C= | ||
| NR_158640.1:n.152+51742C= | ||
| NR_158641.1:n.368+22785C= |