| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127524904A>T , CM000669.2:g.127524904A>T | GRCh38 |
| NC_000007.13:g.127164958A>T , CM000669.1:g.127164958A>T | GRCh37 |
| NC_000007.12:g.126952194A>T | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001745351.1:n.2291+10245T>A | |
| XR_001745352.1:n.493+10245T>A | |
| XR_927939.1:n.387+10245T>A |