Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75813751C>T , CM000673.2:g.75813751C>T | GRCh38 |
| NC_000011.9:g.75524796C>T , CM000673.1:g.75524796C>T | GRCh37 |
| NC_000011.8:g.75202444C>T | NCBI36 |
| NG_046930.1:g.3585C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_144531.1:n.446G>A | |
| XR_110893.3:n.446G>A | |
| XR_428959.2:n.447G>A | |
| XR_950318.1:n.446G>A | |
| XR_950319.1:n.446G>A | |
| XR_950320.1:n.446G>A | |
| XR_950321.1:n.446G>A | |
| XR_950322.1:n.446G>A | |
| XR_950323.1:n.458+712G>A | |
| XR_950324.1:n.363G>A | |
| XR_950325.1:n.360G>A |