| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.14636732T>G , CM000668.2:g.14636732T>G | GRCh38 |
| NC_000006.11:g.14636963T>G , CM000668.1:g.14636963T>G | GRCh37 |
| NC_000006.10:g.14744942T>G | NCBI36 |
| HGVS | Amino-acid Change |
|---|---|
| XR_001743992.1:n.559+5430A>C | |
| XR_241980.2:n.173+7219A>C | |
| XR_241980.3:n.421+7219A>C | |
| XR_926515.1:n.173+7219A>C | |
| XR_926517.1:n.84+5430A>C |