Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159288656C>A , CM000663.2:g.159288656C>A | GRCh38 |
| NC_000001.10:g.159258446C>A , CM000663.1:g.159258446C>A | GRCh37 |
| NC_000001.9:g.157525070C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_002001.3:c.-97-1060C>A | NP_001992.1:n.-97-1060C>A | |
| NM_002001.4:c.-97-1060C>A | NP_001992.1:n.-97-1060C>A |