Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32644492C>G , CM000668.2:g.32644492C>G | GRCh38 |
| NC_000006.11:g.32612269C>G , CM000668.1:g.32612269C>G | GRCh37 |
| NC_000006.10:g.32720247C>G | NCBI36 |
| NG_032876.1:g.12087C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460633.1:n.2880C>G | ||
| XM_006715079.2:c.613+2239C>G | XP_006715142.1:n.613+2239C>G | |
| XM_006715079.4:c.613+2239C>G | XP_006715142.1:n.613+2239C>G |