Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32814366G>C , CM000668.2:g.32814366G>C | GRCh38 |
| NC_000006.11:g.32782143G>C , CM000668.1:g.32782143G>C | GRCh37 |
| NC_000006.10:g.32890121G>C | NCBI36 |
| NG_009793.3:g.29405C>G | |
| NG_012008.1:g.7683C>G | |
| NG_009793.4:g.29405C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438763.7:c.597C>G MANE Select | ENSP00000390020.2:p.Cys199Trp | |
| ENST00000648009.1:c.597C>G | ENSP00000496848.1:p.Cys199Trp | |
| ENST00000438763.6:c.597C>G | ENSP00000390020.2:p.Cys199Trp | |
| ENST00000452392.2:c.2418C>G | ENSP00000391806.2:p.Cys806Trp | |
| ENST00000475235.1:n.634C>G | ||
| ENST00000488325.5:c.*368C>G | ENSP00000436618.1:n.*368C>G | |
| NM_002120.3:c.597C>G | NP_002111.1:p.Cys199Trp | |
| NM_002120.4:c.597C>G MANE Select | NP_002111.1:p.Cys199Trp |