Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319413C>A , CM000673.2:g.6319413C>A | GRCh38 |
| NC_000011.9:g.6340643C>A , CM000673.1:g.6340643C>A | GRCh37 |
| NC_000011.8:g.6297219C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.536G>T MANE Select | ENSP00000307292.3:p.Arg179Leu | |
| ENST00000303927.3:c.536G>T | ENSP00000307292.3:p.Arg179Leu | |
| ENST00000524852.1:n.322G>T | ||
| ENST00000530979.1:c.632G>T | ENSP00000432047.1:p.Arg211Leu | |
| ENST00000532354.1:n.558G>T | ||
| NM_145040.2:c.536G>T | NP_659477.2:p.Arg179Leu | |
| XR_930997.1:n.720+1193C>A | ||
| XR_001748106.1:n.24C>A | ||
| XR_242848.4:n.273C>A | ||
| NM_145040.3:c.536G>T MANE Select | NP_659477.2:p.Arg179Leu |