| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98102413C>A , CM000668.2:g.98102413C>A | GRCh38 |
| NC_000006.11:g.98550289C>A , CM000668.1:g.98550289C>A | GRCh37 |
| NC_000006.10:g.98657010C>A | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_245563.2:n.456+3143C>A | |
| XR_942809.1:n.456+3143C>A |