Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.18956002C>T , CM000686.2:g.18956002C>T | GRCh38 |
| NC_000024.9:g.21117888C>T , CM000686.1:g.21117888C>T | GRCh37 |
| NC_000024.8:g.19577276C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001543.4:n.504-23161G>A | |
| NR_125733.1:n.579-22527G>A | |
| NR_125734.1:n.579-78797G>A | |
| NR_125735.1:n.504-78797G>A | |
| NR_125736.1:n.139-43520G>A | |
| NR_125737.1:n.139-23161G>A | |
| NR_125737.2:n.139-23161G>A | |
| NR_158640.1:n.153-78797G>A | |
| NR_158641.1:n.369-23161G>A |