Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.145585822C>T , CM000667.2:g.145585822C>T | GRCh38 |
| NC_000005.9:g.144965385C>T , CM000667.1:g.144965385C>T | GRCh37 |
| NC_000005.8:g.144945578C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000510259.5:n.71-112507G>A | |
| XR_944308.1:n.662+179109G>A |