Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6471029C>G , CM000674.2:g.6471029C>G | GRCh38 |
| NC_000012.11:g.6580195C>G , CM000674.1:g.6580195C>G | GRCh37 |
| NC_000012.10:g.6450456C>G | NCBI36 |
| NG_042188.1:g.4871G>C | |
| NG_042188.2:g.4871G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748777.2:n.2296C>G | ||
| XR_001748778.2:n.2293C>G |