Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159283882C>G , CM000663.2:g.159283882C>G | GRCh38 |
| NC_000001.10:g.159253672C>G , CM000663.1:g.159253672C>G | GRCh37 |
| NC_000001.9:g.157520296C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002001.4:c.-112C>G | NP_001992.1:n.-112C>G |