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