Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986022T>G , CM000678.2:g.1986022T>G | GRCh38 |
| NC_000016.9:g.2036023T>G , CM000678.1:g.2036023T>G | GRCh37 |
| NC_000016.8:g.1976024T>G | NCBI36 |
| NG_016288.1:g.6874T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.387T>G | ENSP00000455885.1:p.Cys129Trp | |
| ENST00000248114.7:c.612T>G MANE Select | ENSP00000248114.6:p.Cys204Trp | |
| ENST00000248114.6:c.612T>G | ENSP00000248114.6:p.Cys204Trp | |
| ENST00000565658.1:n.769T>G | ||
| ENST00000567719.1:c.387T>G | ENSP00000455885.1:p.Cys129Trp | |
| ENST00000569451.1:c.*85T>G | ENSP00000456432.1:n.*85T>G | |
| NM_005262.2:c.612T>G | NP_005253.3:p.Cys204Trp | |
| NM_005262.3:c.612T>G MANE Select | NP_005253.3:p.Cys204Trp |