Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120096110T>A , CM000665.2:g.120096110T>A | GRCh38 |
| NC_000003.11:g.119814957T>A , CM000665.1:g.119814957T>A | GRCh37 |
| NC_000003.10:g.121297647T>A | NCBI36 |
| NG_012922.1:g.3308A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001740863.2:n.79+332T>A | |
| XR_002959638.1:n.280T>A |