Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186812695T>C , CM000665.2:g.186812695T>C | GRCh38 |
| NC_000003.11:g.186530484T>C , CM000665.1:g.186530484T>C | GRCh37 |
| NC_000003.10:g.188013178T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_125409.1:n.564-547A>G |