Linked Data
ClinVar Variation Id:
266099
ClinVar RCV Id:
RCV000256415
dbSNP Id:
rs886039810
COSMIC:
COSM323887
PubMed:
PMID:27894351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93809830G>C , CM000670.2:g.93809830G>C | GRCh38 |
| NC_000008.10:g.94822058G>C , CM000670.1:g.94822058G>C | GRCh37 |
| NC_000008.9:g.94891234G>C | NCBI36 |
| NG_009190.1:g.59987G>C , LRG_688:g.59987G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.2707G>C | ENSP00000314488.4:p.Glu903Gln | |
| ENST00000409623.8:c.2662G>C | ENSP00000386966.4:p.Glu888Gln | |
| ENST00000452276.6:c.2590G>C | ENSP00000388671.2:p.Glu864Gln | |
| ENST00000453906.6:c.1825G>C | ENSP00000403035.2:p.Glu609Gln | |
| ENST00000518896.2:c.998G>C | ENSP00000507992.1:n.998G>C | |
| ENST00000520680.2:c.2830G>C | ENSP00000428785.2:p.Glu944Gln | |
| ENST00000521517.6:c.2608G>C | ENSP00000430740.2:p.Glu870Gln | |
| ENST00000681998.1:c.2528G>C | ENSP00000506773.1:n.2528G>C | |
| ENST00000682036.1:c.1948G>C | ENSP00000508390.1:p.Glu650Gln | |
| ENST00000682577.1:c.2480G>C | ENSP00000506963.1:n.2480G>C | |
| ENST00000682624.1:c.*2281G>C | ENSP00000508343.1:n.*2281G>C | |
| ENST00000682700.1:c.2707G>C | ENSP00000507627.1:p.Glu903Gln | |
| ENST00000682744.1:n.2199+669G>C | ||
| ENST00000682804.1:n.2530G>C | ||
| ENST00000682837.1:c.2196G>C | ENSP00000507920.1:n.2196G>C | |
| ENST00000682935.1:n.4757G>C | ||
| ENST00000682984.1:c.2368G>C | ENSP00000507209.1:p.Glu790Gln | |
| ENST00000683078.1:c.2462G>C | ENSP00000506796.1:n.2462G>C | |
| ENST00000683223.1:c.2439G>C | ENSP00000507685.1:n.2439G>C | |
| ENST00000683238.1:n.3931G>C | ||
| ENST00000683249.1:n.4304G>C | ||
| ENST00000683336.1:c.2482+669G>C | ENSP00000507695.1:n.2482+669G>C | |
| ENST00000683362.1:c.2368G>C | ENSP00000506985.1:p.Glu790Gln | |
| ENST00000683919.1:c.2637G>C | ENSP00000507617.1:n.2637G>C | |
| ENST00000683953.1:c.2618G>C | ENSP00000508375.1:n.2618G>C | |
| ENST00000684023.1:c.2684G>C | ENSP00000507461.1:n.2684G>C | |
| ENST00000684064.1:c.2398G>C | ENSP00000508192.1:p.Glu800Gln | |
| ENST00000684089.1:n.4257G>C | ||
| ENST00000684149.1:c.*1886G>C | ENSP00000507943.1:n.*1886G>C | |
| ENST00000684343.1:c.904G>C | ENSP00000507591.1:p.Glu302Gln | |
| ENST00000684416.1:n.2666G>C | ||
| ENST00000684540.1:c.2637G>C | ENSP00000507987.1:n.2637G>C | |
| ENST00000453321.8:c.2707G>C MANE Select | ENSP00000389998.3:p.Glu903Gln | |
| ENST00000323130.7:c.2677G>C | ENSP00000314488.3:p.Glu893Gln | |
| ENST00000409623.7:c.2464G>C | ENSP00000386966.3:p.Glu822Gln | |
| ENST00000453321.7:c.2707G>C | ENSP00000389998.3:p.Glu903Gln | |
| ENST00000474944.5:n.1845G>C | ||
| ENST00000519845.5:n.1439G>C | ||
| NM_001142301.1:c.2464G>C , LRG_688t2:c.2464G>C | NP_001135773.1:p.Glu822Gln | |
| NM_153704.5:c.2707G>C , LRG_688t1:c.2707G>C | NP_714915.3:p.Glu903Gln | |
| NR_024522.1:n.2778G>C | ||
| XM_006716686.2:c.2404G>C | XP_006716749.1:p.Glu802Gln | |
| XM_006716687.2:c.2107G>C | XP_006716750.1:p.Glu703Gln | |
| XM_011517363.1:c.1825G>C | XP_011515665.1:p.Glu609Gln | |
| XR_428387.1:n.2765G>C | ||
| XR_928360.1:n.2765G>C | ||
| XR_928361.1:n.2765G>C | ||
| XR_928362.1:n.2765G>C | ||
| XM_006716686.4:c.2404G>C | XP_006716749.1:p.Glu802Gln | |
| XM_011517363.3:c.1825G>C | XP_011515665.1:p.Glu609Gln | |
| XM_024447326.1:c.2053G>C | XP_024303094.1:p.Glu685Gln | |
| XR_001745619.2:n.2748G>C | ||
| XR_428387.2:n.2748G>C | ||
| XR_928360.3:n.2748G>C | ||
| XR_928362.3:n.2748G>C | ||
| NM_153704.6:c.2707G>C MANE Select | NP_714915.3:p.Glu903Gln | |
| NR_024522.2:n.2728G>C |