Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95007177A>G , CM000672.2:g.95007177A>G | GRCh38 |
| NC_000010.10:g.96766934A>G , CM000672.1:g.96766934A>G | GRCh37 |
| NC_000010.9:g.96756924A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457790.1:n.218T>C |