Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6351298C>G , CM000672.2:g.6351298C>G | GRCh38 |
| NC_000010.10:g.6393260C>G , CM000672.1:g.6393260C>G | GRCh37 |
| NC_000010.9:g.6433266C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_242715.2:n.3074C>G | ||
| NR_148966.1:n.983C>G |