Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.145585765G>T , CM000667.2:g.145585765G>T | GRCh38 |
| NC_000005.9:g.144965328G>T , CM000667.1:g.144965328G>T | GRCh37 |
| NC_000005.8:g.144945521G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510259.5:n.71-112450C>A | ||
| XR_944308.1:n.662+179166C>A |