Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221628G>C , CM000671.2:g.99221628G>C | GRCh38 |
| NC_000009.11:g.101983910G>C , CM000671.1:g.101983910G>C | GRCh37 |
| NC_000009.10:g.101023731G>C | NCBI36 |
| NG_008928.1:g.5337C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.267C>G MANE Select | ENSP00000417764.1:p.Cys89Trp | |
| ENST00000238477.5:c.267C>G | ENSP00000432675.2:p.Cys89Trp | |
| ENST00000476832.1:c.267C>G | ENSP00000417764.1:p.Cys89Trp | |
| NM_033087.3:c.267C>G | NP_149078.1:p.Cys89Trp | |
| NR_024532.1:n.337C>G | ||
| NM_033087.4:c.267C>G MANE Select | NP_149078.1:p.Cys89Trp | |
| NR_024532.2:n.315C>G |