Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41772305A>T , CM000669.2:g.41772305A>T | GRCh38 |
| NC_000007.13:g.41811903A>T , CM000669.1:g.41811903A>T | GRCh37 |
| NC_000007.12:g.41778428A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027118.1:n.359-591A>T | ||
| NR_027118.2:n.356-591A>T | ||
| XR_001745185.1:n.964+36591A>T | ||
| XR_001745186.1:n.954+36601A>T |