Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981500T>G , CM000674.2:g.48981500T>G | GRCh38 |
| NC_000012.11:g.49375283T>G , CM000674.1:g.49375283T>G | GRCh37 |
| NC_000012.10:g.47661550T>G | NCBI36 |
| NG_033141.1:g.8048T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.973T>G MANE Select | ENSP00000293549.3:p.Cys325Gly | |
| ENST00000293549.3:c.973T>G | ENSP00000293549.3:p.Cys325Gly | |
| ENST00000613114.4:c.940T>G | ENSP00000481240.1:p.Cys314Gly | |
| NM_005430.3:c.973T>G | NP_005421.1:p.Cys325Gly | |
| NM_005430.4:c.973T>G MANE Select | NP_005421.1:p.Cys325Gly |