Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32813108A>G , CM000675.2:g.32813108A>G | GRCh38 |
| NC_000013.10:g.33387246A>G , CM000675.1:g.33387246A>G | GRCh37 |
| NC_000013.9:g.32285246A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_047020.1:n.906-3468T>C |