Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307301C>T , CM000673.2:g.121307301C>T | GRCh38 |
| NC_000011.9:g.121178010C>T , CM000673.1:g.121178010C>T | GRCh37 |
| NC_000011.8:g.120683220C>T | NCBI36 |
| NG_009446.1:g.19623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.689C>T MANE Select | ENSP00000264027.4:p.Thr230Ile | |
| ENST00000264027.8:c.689C>T | ENSP00000264027.4:p.Thr230Ile | |
| ENST00000392789.2:c.689C>T | ENSP00000376539.2:p.Thr230Ile | |
| ENST00000527183.1:n.982C>T | ||
| ENST00000534230.5:c.631+58C>T | ENSP00000432550.1:n.631+58C>T | |
| NM_001024956.2:c.689C>T | NP_001020127.1:p.Thr230Ile | |
| NM_006918.4:c.689C>T | NP_008849.2:p.Thr230Ile | |
| NM_006918.5:c.689C>T MANE Select | NP_008849.2:p.Thr230Ile | |
| NM_001024956.3:c.689C>T | NP_001020127.1:p.Thr230Ile |