| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160776286G>T , CM000663.2:g.160776286G>T | GRCh38 |
| NC_000001.10:g.160746076G>T , CM000663.1:g.160746076G>T | GRCh37 |
| NC_000001.9:g.159012700G>T | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| ENST00000620690.1:n.262+61C>A | |
| XR_001738267.1:n.430+33C>A | |
| XR_922204.1:n.447C>A | |
| XR_922205.1:n.414+33C>A | |
| XR_922205.2:n.430+33C>A | |
| XR_922206.1:n.447C>A |