Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19004472G= , CM000686.2:g.19004472G= | GRCh38 |
| NC_000024.9:g.21166358G= , CM000686.1:g.21166358G= | GRCh37 |
| NC_000024.8:g.19625746G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125733.1:n.578+64252C= | ||
| NR_125734.1:n.578+64252C= | ||
| NR_125735.1:n.503+72573C= | ||
| NR_125736.1:n.138+64252C= | ||
| NR_125737.1:n.138+64252C= | ||
| NR_001543.4:n.504-71631C= | ||
| NR_125737.2:n.138+64252C= | ||
| NR_158640.1:n.152+69027C= | ||
| NR_158641.1:n.368+40070C= |