Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43770057A>G , CM000668.2:g.43770057A>G | GRCh38 |
| NC_000006.11:g.43737794A>G , CM000668.1:g.43737794A>G | GRCh37 |
| NC_000006.10:g.43845772A>G | NCBI36 |
| NG_008732.1:g.4842A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001318876.2:c.945+240786A>G | NP_001305805.1:n.945+240786A>G |