Linked Data
ClinVar Variation Id:
206719
dbSNP Id:
rs117157204
ExAC:
4:77084391 C / T
gnomAD v2:
4-77084391-C-T
gnomAD v3:
4-76163238-C-T
gnomAD v4:
4-76163238-C-T
COSMIC:
COSM3683314
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76163238C>T , CM000666.2:g.76163238C>T | GRCh38 |
| NC_000004.11:g.77084391C>T , CM000666.1:g.77084391C>T | GRCh37 |
| NC_000004.10:g.77303415C>T | NCBI36 |
| NG_012054.1:g.55645G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.1361G>A | ||
| ENST00000264896.8:c.1385G>A MANE Select | ENSP00000264896.2:p.Gly462Glu | |
| ENST00000511129.2:n.761G>A | ||
| ENST00000638295.1:c.911G>A | ENSP00000492288.1:p.Gly304Glu | |
| ENST00000638372.1:n.4503G>A | ||
| ENST00000638603.1:c.1265G>A | ENSP00000491728.1:p.Gly422Glu | |
| ENST00000638663.1:c.*167G>A | ENSP00000491407.1:n.*167G>A | |
| ENST00000638680.1:n.2966G>A | ||
| ENST00000639145.1:c.1376G>A | ENSP00000492831.1:p.Gly459Glu | |
| ENST00000639300.1:c.*672G>A | ENSP00000492840.1:n.*672G>A | |
| ENST00000639715.1:c.1340G>A | ||
| ENST00000639738.1:c.473G>A | ENSP00000491792.1:p.Gly158Glu | |
| ENST00000640341.1:c.*1025G>A | ENSP00000492714.1:n.*1025G>A | |
| ENST00000640634.1:c.1506G>A | ||
| ENST00000640640.1:c.1336+49G>A | ENSP00000492246.1:n.1336+49G>A | |
| ENST00000640880.1:c.198G>A | ||
| ENST00000640900.1:n.220G>A | ||
| ENST00000640957.1:c.1385G>A | ENSP00000492004.1:p.Gly462Glu | |
| ENST00000264896.6:c.1385G>A | ENSP00000264896.2:p.Gly462Glu | |
| ENST00000452464.6:c.956G>A | ENSP00000399154.2:p.Gly319Glu | |
| ENST00000511129.1:n.761G>A | ||
| NM_001204255.1:c.956G>A | NP_001191184.1:p.Gly319Glu | |
| NM_005506.3:c.1385G>A | NP_005497.1:p.Gly462Glu | |
| NM_005506.4:c.1385G>A MANE Select | NP_005497.1:p.Gly462Glu | |
| NM_001204255.2:c.956G>A | NP_001191184.1:p.Gly319Glu |