Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186812683A>C , CM000665.2:g.186812683A>C | GRCh38 |
| NC_000003.11:g.186530472A>C , CM000665.1:g.186530472A>C | GRCh37 |
| NC_000003.10:g.188013166A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_125409.1:n.564-535T>G |