Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.18991085C>T , CM000686.2:g.18991085C>T | GRCh38 |
| NC_000024.9:g.21152971C>T , CM000686.1:g.21152971C>T | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_001543.4:n.504-58244G>A | |
| NR_125733.1:n.579-57610G>A | |
| NR_125734.1:n.578+77639G>A | |
| NR_125735.1:n.503+85960G>A | |
| NR_125736.1:n.138+77639G>A | |
| NR_125737.1:n.139-58244G>A | |
| NR_125737.2:n.139-58244G>A | |
| NR_158640.1:n.152+82414G>A | |
| NR_158641.1:n.368+53457G>A |