Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41772240A>G , CM000669.2:g.41772240A>G | GRCh38 |
| NC_000007.13:g.41811838A>G , CM000669.1:g.41811838A>G | GRCh37 |
| NC_000007.12:g.41778363A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027118.1:n.359-656A>G | ||
| NR_027118.2:n.356-656A>G | ||
| XR_001745185.1:n.964+36526A>G | ||
| XR_001745186.1:n.954+36536A>G |