Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985986T>G , CM000678.2:g.1985986T>G | GRCh38 |
| NC_000016.9:g.2035987T>G , CM000678.1:g.2035987T>G | GRCh37 |
| NC_000016.8:g.1975988T>G | NCBI36 |
| NG_016288.1:g.6838T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.351T>G | ENSP00000455885.1:p.Asp117Glu | |
| ENST00000248114.7:c.576T>G MANE Select | ENSP00000248114.6:p.Asp192Glu | |
| ENST00000248114.6:c.576T>G | ENSP00000248114.6:p.Asp192Glu | |
| ENST00000565658.1:n.733T>G | ||
| ENST00000567719.1:c.351T>G | ENSP00000455885.1:p.Asp117Glu | |
| ENST00000569451.1:c.*49T>G | ENSP00000456432.1:n.*49T>G | |
| NM_005262.2:c.576T>G | NP_005253.3:p.Asp192Glu | |
| NM_005262.3:c.576T>G MANE Select | NP_005253.3:p.Asp192Glu |