Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.78451652C>A , CM000675.2:g.78451652C>A | GRCh38 |
| NC_000013.10:g.79025787C>A , CM000675.1:g.79025787C>A | GRCh37 |
| NC_000013.9:g.77923788C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_047001.1:n.385-153649C>A |