Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36460323G>C , CM000683.2:g.36460323G>C | GRCh38 |
| NC_000021.8:g.37832621G>C , CM000683.1:g.37832621G>C | GRCh37 |
| NC_000021.7:g.36754491G>C | NCBI36 |
| NG_011777.1:g.121247C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001755025.1:n.468+14316G>C | |
| XR_937694.1:n.468+14316G>C | |
| XR_937695.1:n.468+14316G>C | |
| XR_937696.1:n.468+14316G>C | |
| XR_937698.1:n.533G>C |