Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.21845173T>G , CM000685.2:g.21845173T>G | GRCh38 |
| NC_000023.10:g.21863291T>G , CM000685.1:g.21863291T>G | GRCh37 |
| NC_000023.9:g.21773212T>G | NCBI36 |
| NG_012797.1:g.10636T>G | |
| NG_012797.2:g.10636T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379484.10:c.227T>G MANE Select | ENSP00000368798.5:p.Phe76Cys | |
| ENST00000365779.2:c.227T>G | ENSP00000368796.1:p.Phe76Cys | |
| ENST00000379484.9:c.227T>G | ENSP00000368798.5:p.Phe76Cys | |
| ENST00000465888.1:n.326T>G | ||
| NM_015884.3:c.227T>G | NP_056968.1:p.Phe76Cys | |
| NM_015884.4:c.227T>G MANE Select | NP_056968.1:p.Phe76Cys |