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