Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44266184C>A , CM000668.2:g.44266184C>A | GRCh38 |
| NC_000006.11:g.44233921C>A , CM000668.1:g.44233921C>A | GRCh37 |
| NC_000006.10:g.44341899C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001318876.2:c.946-175706C>A | NP_001305805.1:n.946-175706C>A |