Linked Data
ClinVar Variation Id:
217719
ClinVar RCV Id:
RCV000201732
dbSNP Id:
rs863225231
gnomAD v3:
8-93782455-C-G
gnomAD v4:
8-93782455-C-G
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93782455C>G , CM000670.2:g.93782455C>G | GRCh38 |
| NC_000008.10:g.94794683C>G , CM000670.1:g.94794683C>G | GRCh37 |
| NC_000008.9:g.94863859C>G | NCBI36 |
| NG_009190.1:g.32612C>G , LRG_688:g.32612C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1126C>G | ENSP00000314488.4:p.Gln376Glu | |
| ENST00000409623.8:c.1126C>G | ENSP00000386966.4:p.Gln376Glu | |
| ENST00000452276.6:c.1126C>G | ENSP00000388671.2:p.Gln376Glu | |
| ENST00000453906.6:c.407-3768C>G | ENSP00000403035.2:n.407-3768C>G | |
| ENST00000520680.2:c.1126C>G | ENSP00000428785.2:p.Gln376Glu | |
| ENST00000521517.6:c.1126C>G | ENSP00000430740.2:p.Gln376Glu | |
| ENST00000681998.1:c.947C>G | ENSP00000506773.1:n.947C>G | |
| ENST00000682036.1:c.407-3768C>G | ENSP00000508390.1:n.407-3768C>G | |
| ENST00000682577.1:c.1056C>G | ENSP00000506963.1:n.1056C>G | |
| ENST00000682624.1:c.*700C>G | ENSP00000508343.1:n.*700C>G | |
| ENST00000682700.1:c.1126C>G | ENSP00000507627.1:p.Gln376Glu | |
| ENST00000682744.1:n.664C>G | ||
| ENST00000682804.1:n.949C>G | ||
| ENST00000682837.1:c.772C>G | ENSP00000507920.1:n.772C>G | |
| ENST00000682935.1:n.2686C>G | ||
| ENST00000682984.1:c.787C>G | ENSP00000507209.1:p.Gln263Glu | |
| ENST00000683078.1:c.881C>G | ENSP00000506796.1:n.881C>G | |
| ENST00000683223.1:c.858C>G | ENSP00000507685.1:n.858C>G | |
| ENST00000683238.1:n.2507C>G | ||
| ENST00000683249.1:n.2723C>G | ||
| ENST00000683336.1:c.947C>G | ENSP00000507695.1:n.947C>G | |
| ENST00000683362.1:c.787C>G | ENSP00000506985.1:p.Gln263Glu | |
| ENST00000683850.1:n.1049C>G | ||
| ENST00000683919.1:c.1056C>G | ENSP00000507617.1:n.1056C>G | |
| ENST00000683953.1:c.1037C>G | ENSP00000508375.1:n.1037C>G | |
| ENST00000684023.1:c.1260C>G | ENSP00000507461.1:n.1260C>G | |
| ENST00000684064.1:c.817C>G | ENSP00000508192.1:p.Gln273Glu | |
| ENST00000684089.1:n.2676C>G | ||
| ENST00000684149.1:c.*462C>G | ENSP00000507943.1:n.*462C>G | |
| ENST00000684416.1:n.1085C>G | ||
| ENST00000684540.1:c.1056C>G | ENSP00000507987.1:n.1056C>G | |
| ENST00000453321.8:c.1126C>G MANE Select | ENSP00000389998.3:p.Gln376Glu | |
| ENST00000323130.7:c.1096C>G | ENSP00000314488.3:p.Gln366Glu | |
| ENST00000409623.7:c.883C>G | ENSP00000386966.3:p.Gln295Glu | |
| ENST00000452276.5:c.817C>G | ENSP00000388671.1:p.Gln273Glu | |
| ENST00000453321.7:c.1126C>G | ENSP00000389998.3:p.Gln376Glu | |
| ENST00000453906.5:c.407-3768C>G | ENSP00000403035.1:n.407-3768C>G | |
| ENST00000474944.5:n.427-3768C>G | ||
| NM_001142301.1:c.883C>G , LRG_688t2:c.883C>G | NP_001135773.1:p.Gln295Glu | |
| NM_153704.5:c.1126C>G , LRG_688t1:c.1126C>G | NP_714915.3:p.Gln376Glu | |
| NR_024522.1:n.1197C>G | ||
| XM_006716686.2:c.823C>G | XP_006716749.1:p.Gln275Glu | |
| XM_006716687.2:c.526C>G | XP_006716750.1:p.Gln176Glu | |
| XM_011517363.1:c.407-3768C>G | XP_011515665.1:n.407-3768C>G | |
| XR_428387.1:n.1184C>G | ||
| XR_928360.1:n.1184C>G | ||
| XR_928361.1:n.1184C>G | ||
| XR_928362.1:n.1184C>G | ||
| XM_006716686.4:c.823C>G | XP_006716749.1:p.Gln275Glu | |
| XM_011517363.3:c.407-3768C>G | XP_011515665.1:n.407-3768C>G | |
| XM_024447326.1:c.472C>G | XP_024303094.1:p.Gln158Glu | |
| XR_001745619.2:n.1167C>G | ||
| XR_428387.2:n.1167C>G | ||
| XR_928360.3:n.1167C>G | ||
| XR_928362.3:n.1167C>G | ||
| NM_153704.6:c.1126C>G MANE Select | NP_714915.3:p.Gln376Glu | |
| NR_024522.2:n.1147C>G |