Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43769749C>A , CM000668.2:g.43769749C>A | GRCh38 |
| NC_000006.11:g.43737486C>A , CM000668.1:g.43737486C>A | GRCh37 |
| NC_000006.10:g.43845464C>A | NCBI36 |
| NG_008732.1:g.4534C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001318876.2:c.945+240478C>A | NP_001305805.1:n.945+240478C>A |