| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.29960950C>G , CM000674.2:g.29960950C>G | GRCh38 |
| NC_000012.11:g.30113883C>G , CM000674.1:g.30113883C>G | GRCh37 |
| NC_000012.10:g.30005150C>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001749060.1:n.314-17910G>C | |
| XR_001749061.1:n.314-17910G>C | |
| XR_931473.1:n.314-17910G>C | |
| XR_931474.1:n.314-17910G>C | |
| XR_931475.1:n.135-17910G>C |