Linked Data
ClinVar Variation Id:
217727
ClinVar RCV Id:
RCV000201657
dbSNP Id:
rs863225236
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93815341G>A , CM000670.2:g.93815341G>A | GRCh38 |
| NC_000008.10:g.94827569G>A , CM000670.1:g.94827569G>A | GRCh37 |
| NC_000008.9:g.94896745G>A | NCBI36 |
| NG_009190.1:g.65498G>A , LRG_688:g.65498G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2801G>A | ENSP00000314488.4:p.Gly934Glu | |
| ENST00000409623.8:c.2756G>A | ENSP00000386966.4:p.Gly919Glu | |
| ENST00000452276.6:c.2684G>A | ENSP00000388671.2:p.Gly895Glu | |
| ENST00000453906.6:c.1919G>A | ENSP00000403035.2:p.Gly640Glu | |
| ENST00000518896.2:c.1092G>A | ENSP00000507992.1:n.1092G>A | |
| ENST00000520680.2:c.2924G>A | ENSP00000428785.2:p.Gly975Glu | |
| ENST00000521517.6:c.2702G>A | ENSP00000430740.2:p.Gly901Glu | |
| ENST00000681998.1:c.2622G>A | ENSP00000506773.1:n.2622G>A | |
| ENST00000682036.1:c.2042G>A | ENSP00000508390.1:p.Gly681Glu | |
| ENST00000682577.1:c.2574G>A | ENSP00000506963.1:n.2574G>A | |
| ENST00000682624.1:c.*2375G>A | ENSP00000508343.1:n.*2375G>A | |
| ENST00000682700.1:c.2932G>A | ENSP00000507627.1:n.2932G>A | |
| ENST00000682744.1:n.2236G>A | ||
| ENST00000682804.1:n.2624G>A | ||
| ENST00000682837.1:c.2290G>A | ENSP00000507920.1:n.2290G>A | |
| ENST00000682935.1:n.4851G>A | ||
| ENST00000682984.1:c.2462G>A | ENSP00000507209.1:p.Gly821Glu | |
| ENST00000683078.1:c.2556G>A | ENSP00000506796.1:n.2556G>A | |
| ENST00000683223.1:c.2727G>A | ENSP00000507685.1:n.2727G>A | |
| ENST00000683238.1:n.4025G>A | ||
| ENST00000683249.1:n.4398G>A | ||
| ENST00000683336.1:c.2519G>A | ENSP00000507695.1:n.2519G>A | |
| ENST00000683362.1:c.2462G>A | ENSP00000506985.1:p.Gly821Glu | |
| ENST00000683919.1:c.2731G>A | ENSP00000507617.1:n.2731G>A | |
| ENST00000683953.1:c.2712G>A | ENSP00000508375.1:n.2712G>A | |
| ENST00000684023.1:c.2972G>A | ENSP00000507461.1:n.2972G>A | |
| ENST00000684064.1:c.2492G>A | ENSP00000508192.1:p.Gly831Glu | |
| ENST00000684089.1:n.4351G>A | ||
| ENST00000684149.1:c.*1980G>A | ENSP00000507943.1:n.*1980G>A | |
| ENST00000684343.1:c.998G>A | ENSP00000507591.1:p.Gly333Glu | |
| ENST00000684416.1:n.2760G>A | ||
| ENST00000684540.1:c.2925G>A | ENSP00000507987.1:n.2925G>A | |
| ENST00000453321.8:c.2801G>A MANE Select | ENSP00000389998.3:p.Gly934Glu | |
| ENST00000323130.7:c.2771G>A | ENSP00000314488.3:p.Gly924Glu | |
| ENST00000409623.7:c.2558G>A | ENSP00000386966.3:p.Gly853Glu | |
| ENST00000453321.7:c.2801G>A | ENSP00000389998.3:p.Gly934Glu | |
| ENST00000518896.1:n.67G>A | ||
| ENST00000519845.5:n.1533G>A | ||
| NM_001142301.1:c.2558G>A , LRG_688t2:c.2558G>A | NP_001135773.1:p.Gly853Glu | |
| NM_153704.5:c.2801G>A , LRG_688t1:c.2801G>A | NP_714915.3:p.Gly934Glu | |
| NR_024522.1:n.2872G>A | ||
| XM_006716686.2:c.2498G>A | XP_006716749.1:p.Gly833Glu | |
| XM_006716687.2:c.2201G>A | XP_006716750.1:p.Gly734Glu | |
| XM_011517363.1:c.1919G>A | XP_011515665.1:p.Gly640Glu | |
| XR_428387.1:n.2859G>A | ||
| XR_928360.1:n.2859G>A | ||
| XR_928361.1:n.2859G>A | ||
| XR_928362.1:n.3053G>A | ||
| XM_006716686.4:c.2498G>A | XP_006716749.1:p.Gly833Glu | |
| XM_011517363.3:c.1919G>A | XP_011515665.1:p.Gly640Glu | |
| XM_024447326.1:c.2147G>A | XP_024303094.1:p.Gly716Glu | |
| XR_001745619.2:n.2842G>A | ||
| XR_428387.2:n.2842G>A | ||
| XR_928360.3:n.2842G>A | ||
| XR_928362.3:n.3036G>A | ||
| NM_153704.6:c.2801G>A MANE Select | NP_714915.3:p.Gly934Glu | |
| NR_024522.2:n.2822G>A |