Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41772317A>G , CM000669.2:g.41772317A>G | GRCh38 |
| NC_000007.13:g.41811915A>G , CM000669.1:g.41811915A>G | GRCh37 |
| NC_000007.12:g.41778440A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027118.1:n.359-579A>G | ||
| NR_027118.2:n.356-579A>G | ||
| XR_001745185.1:n.964+36603A>G | ||
| XR_001745186.1:n.954+36613A>G |