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