Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851250A>G , CM000668.2:g.131851250A>G | GRCh38 |
| NC_000006.11:g.132172390A>G , CM000668.1:g.132172390A>G | GRCh37 |
| NC_000006.10:g.132214083A>G | NCBI36 |
| NG_008206.1:g.48235A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.539A>G MANE Select | ENSP00000498074.1:p.Tyr180Cys | |
| ENST00000650147.1:c.217A>G | ||
| ENST00000650437.1:c.108+1144A>G | ||
| ENST00000360971.6:c.539A>G | ENSP00000354238.2:p.Tyr180Cys | |
| ENST00000486853.1:n.559A>G | ||
| ENST00000513998.5:c.539A>G | ENSP00000422424.1:p.Tyr180Cys | |
| NM_006208.2:c.539A>G | NP_006199.2:p.Tyr180Cys | |
| NM_006208.3:c.539A>G MANE Select | NP_006199.2:p.Tyr180Cys |