Linked Data
ClinVar Variation Id:
24807
dbSNP Id:
rs377767331
COSMIC:
COSM1582844
PubMed:
PMID:10441006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51054859C>G , CM000680.2:g.51054859C>G | GRCh38 |
| NC_000018.9:g.48581229C>G , CM000680.1:g.48581229C>G | GRCh37 |
| NC_000018.8:g.46835227C>G | NCBI36 |
| NG_013013.2:g.91820C>G , LRG_318:g.91820C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.533C>G | ENSP00000465878.2:p.Ser178Ter | |
| ENST00000589076.6:c.533C>G | ENSP00000466934.2:p.Ser178Ter | |
| ENST00000589941.2:c.533C>G | ENSP00000465874.2:p.Ser178Ter | |
| ENST00000590061.2:c.533C>G | ENSP00000464772.2:p.Ser178Ter | |
| ENST00000593223.2:c.533C>G | ENSP00000466118.2:p.Ser178Ter | |
| ENST00000611848.2:c.533C>G | ENSP00000478613.2:p.Ser178Ter | |
| ENST00000684953.1:n.1905C>G | ||
| ENST00000688307.1:n.21C>G | ||
| ENST00000342988.8:c.533C>G MANE Select | ENSP00000341551.3:p.Ser178Ter | |
| ENST00000342988.7:c.533C>G | ENSP00000341551.3:p.Ser178Ter | |
| ENST00000398417.6:c.533C>G | ENSP00000381452.1:p.Ser178Ter | |
| ENST00000585448.1:n.402C>G | ||
| ENST00000588745.5:c.533C>G | ENSP00000464901.1:p.Ser178Ter | |
| ENST00000590722.2:c.*709C>G | ENSP00000465737.1:n.*709C>G | |
| ENST00000591126.5:n.2534C>G | ||
| ENST00000592186.5:c.533C>G | ENSP00000468611.1:p.Ser178Ter | |
| ENST00000592911.5:n.311C>G | ||
| NM_005359.5:c.533C>G , LRG_318t1:c.533C>G | NP_005350.1:p.Ser178Ter | |
| NM_005359.6:c.533C>G MANE Select | NP_005350.1:p.Ser178Ter |