Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.12893937T>C , CM000682.2:g.12893937T>C | GRCh38 |
| NC_000020.10:g.12874585T>C , CM000682.1:g.12874585T>C | GRCh37 |
| NC_000020.9:g.12822585T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_109868.1:n.1669+410A>G |