Linked Data
ClinVar Variation Id:
372946
dbSNP Id:
rs1057518092
COSMIC:
COSM215816
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.499909C>T , CM000682.2:g.499909C>T | GRCh38 |
| NC_000020.10:g.480553C>T , CM000682.1:g.480553C>T | GRCh37 |
| NC_000020.9:g.428553C>T | NCBI36 |
| NG_011970.1:g.48930G>A | |
| NG_011970.2:g.48930G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217244.9:c.239G>A MANE Select | ENSP00000217244.3:p.Arg80His | |
| ENST00000349736.10:c.-170G>A | ENSP00000339247.6:n.-170G>A | |
| ENST00000400217.7:c.239G>A | ENSP00000383076.2:p.Arg80His | |
| ENST00000400227.8:c.239G>A | ENSP00000383086.3:p.Arg80His | |
| ENST00000460062.7:c.-170G>A | ENSP00000477147.2:n.-170G>A | |
| ENST00000608066.6:c.239G>A | ENSP00000476486.2:p.Arg80His | |
| ENST00000609525.2:c.239G>A | ENSP00000476547.2:p.Arg80His | |
| ENST00000609606.6:n.467G>A | ||
| ENST00000642689.1:c.239G>A | ENSP00000495414.1:p.Arg80His | |
| ENST00000643600.1:c.239G>A | ENSP00000494038.1:p.Arg80His | |
| ENST00000643660.1:c.239G>A | ENSP00000495248.1:p.Arg80His | |
| ENST00000643680.1:c.239G>A | ENSP00000493704.1:p.Arg80His | |
| ENST00000643700.1:n.389G>A | ||
| ENST00000643968.1:c.239G>A | ENSP00000495139.1:p.Arg80His | |
| ENST00000643980.1:n.605G>A | ||
| ENST00000644003.1:c.-276G>A | ENSP00000495387.1:n.-276G>A | |
| ENST00000644170.1:n.406G>A | ||
| ENST00000644177.1:c.214-604G>A | ENSP00000495079.1:n.214-604G>A | |
| ENST00000644710.1:c.239G>A | ENSP00000493791.1:p.Arg80His | |
| ENST00000644885.1:c.239G>A | ENSP00000496146.1:p.Arg80His | |
| ENST00000645091.1:c.239G>A | ENSP00000495942.1:p.Arg80His | |
| ENST00000645234.1:c.239G>A | ENSP00000494288.1:p.Arg80His | |
| ENST00000645249.1:c.*312G>A | ENSP00000496152.1:n.*312G>A | |
| ENST00000645260.1:c.239G>A | ENSP00000493931.1:p.Arg80His | |
| ENST00000645623.1:c.239G>A | ENSP00000495998.1:p.Arg80His | |
| ENST00000645768.1:n.866G>A | ||
| ENST00000645840.1:c.*57G>A | ENSP00000494445.1:n.*57G>A | |
| ENST00000645910.1:c.239G>A | ENSP00000493697.1:p.Arg80His | |
| ENST00000646305.1:c.239G>A | ENSP00000495902.1:p.Arg80His | |
| ENST00000646443.1:n.144G>A | ||
| ENST00000646477.1:c.-219G>A | ENSP00000495439.1:n.-219G>A | |
| ENST00000646561.1:c.239G>A | ENSP00000496569.1:p.Arg80His | |
| ENST00000646814.1:c.239G>A | ENSP00000495422.1:p.Arg80His | |
| ENST00000647026.1:c.239G>A | ENSP00000494370.1:p.Arg80His | |
| ENST00000647155.1:n.404G>A | ||
| ENST00000647348.1:c.239G>A | ENSP00000495912.1:p.Arg80His | |
| ENST00000217244.7:c.239G>A | ENSP00000217244.3:p.Arg80His | |
| ENST00000349736.9:c.239G>A | ENSP00000339247.5:p.Arg80His | |
| ENST00000400217.6:c.-170G>A | ENSP00000383076.1:n.-170G>A | |
| ENST00000400227.7:c.239G>A | ENSP00000383086.3:p.Arg80His | |
| ENST00000460062.6:c.-276G>A | ENSP00000477147.1:n.-276G>A | |
| ENST00000608066.5:c.239G>A | ||
| ENST00000609606.5:n.406G>A | ||
| ENST00000619188.4:c.239G>A | ENSP00000479630.1:p.Arg80His | |
| NM_001895.3:c.239G>A | NP_001886.1:p.Arg80His | |
| NM_177559.2:c.239G>A | NP_808227.1:p.Arg80His | |
| NM_177560.2:c.-170G>A | NP_808228.1:n.-170G>A | |
| XM_011529175.1:c.239G>A | XP_011527477.1:p.Arg80His | |
| XM_011529176.1:c.-170G>A | XP_011527478.1:n.-170G>A | |
| NM_001362770.1:c.239G>A | NP_001349699.1:p.Arg80His | |
| NM_001362771.1:c.239G>A | NP_001349700.1:p.Arg80His | |
| NM_177559.3:c.239G>A MANE Select | NP_808227.1:p.Arg80His | |
| NM_001362770.2:c.239G>A | NP_001349699.1:p.Arg80His | |
| NM_001362771.2:c.239G>A | NP_001349700.1:p.Arg80His | |
| NM_001895.4:c.239G>A | NP_001886.1:p.Arg80His | |
| NM_177560.3:c.-170G>A | NP_808228.1:n.-170G>A |