Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159288775G>A , CM000663.2:g.159288775G>A | GRCh38 |
| NC_000001.10:g.159258565G>A , CM000663.1:g.159258565G>A | GRCh37 |
| NC_000001.9:g.157525189G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_002001.3:c.-97-941G>A | NP_001992.1:n.-97-941G>A | |
| NM_002001.4:c.-97-941G>A | NP_001992.1:n.-97-941G>A |