Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319165A>C , CM000673.2:g.6319165A>C | GRCh38 |
| NC_000011.9:g.6340395A>C , CM000673.1:g.6340395A>C | GRCh37 |
| NC_000011.8:g.6296971A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.784T>G MANE Select | ENSP00000307292.3:p.Ter262Gly | |
| ENST00000303927.3:c.784T>G | ENSP00000307292.3:p.Ter262Gly | |
| ENST00000524852.1:n.570T>G | ||
| ENST00000530979.1:c.880T>G | ENSP00000432047.1:p.Ter294Gly | |
| ENST00000532354.1:n.806T>G | ||
| NM_145040.2:c.784T>G | NP_659477.2:p.Ter262Gly | |
| XR_930997.1:n.720+945A>C | ||
| XR_242848.4:n.25A>C | ||
| NM_145040.3:c.784T>G MANE Select | NP_659477.2:p.Ter262Gly |