dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.18991654C>T , CM000686.2:g.18991654C>T | GRCh38 |
| NC_000024.9:g.21153540C>T , CM000686.1:g.21153540C>T | GRCh37 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125733.1:n.579-58179G>A | ||
| NR_125734.1:n.578+77070G>A | ||
| NR_125735.1:n.503+85391G>A | ||
| NR_125736.1:n.138+77070G>A | ||
| NR_125737.1:n.139-58813G>A | ||
| NR_001543.4:n.504-58813G>A | ||
| NR_125737.2:n.139-58813G>A | ||
| NR_158640.1:n.152+81845G>A | ||
| NR_158641.1:n.368+52888G>A |