| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126643364A>G , CM000668.2:g.126643364A>G | GRCh38 |
| NC_000006.11:g.126964510A>G , CM000668.1:g.126964510A>G | GRCh37 |
| NC_000006.10:g.127006203A>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000650727.1:n.1167-21491T>C | |
| ENST00000651326.1:n.694-39899T>C | |
| ENST00000652545.1:n.1477-21491T>C |