Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41772271C>G , CM000669.2:g.41772271C>G | GRCh38 |
| NC_000007.13:g.41811869C>G , CM000669.1:g.41811869C>G | GRCh37 |
| NC_000007.12:g.41778394C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027118.1:n.359-625C>G | ||
| NR_027118.2:n.356-625C>G | ||
| XR_001745185.1:n.964+36557C>G | ||
| XR_001745186.1:n.954+36567C>G |