Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.101044276G>C , CM000676.2:g.101044276G>C | GRCh38 |
| NC_000014.8:g.101510613G>C , CM000676.1:g.101510613G>C | GRCh37 |
| NC_000014.7:g.100580366G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_031571.1:n.79G>C |