| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45145697A>G , CM000680.2:g.45145697A>G | GRCh38 |
| NC_000018.9:g.42725662A>G , CM000680.1:g.42725662A>G | GRCh37 |
| NC_000018.8:g.40979660A>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_935420.1:n.195+4443T>C | |
| XR_935421.1:n.195+4443T>C | |
| XR_935421.2:n.242+4443T>C |