Linked Data
ClinVar Variation Id:
126306
dbSNP Id:
rs587779736
ExAC:
8:94792854 G / A
gnomAD v2:
8-94792854-G-A
gnomAD v3:
8-93780626-G-A
gnomAD v4:
8-93780626-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780626G>A , CM000670.2:g.93780626G>A | GRCh38 |
| NC_000008.10:g.94792854G>A , CM000670.1:g.94792854G>A | GRCh37 |
| NC_000008.9:g.94862030G>A | NCBI36 |
| NG_009190.1:g.30783G>A , LRG_688:g.30783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.748G>A | ENSP00000314488.4:p.Gly250Arg | |
| ENST00000409623.8:c.748G>A | ENSP00000386966.4:p.Gly250Arg | |
| ENST00000452276.6:c.748G>A | ENSP00000388671.2:p.Gly250Arg | |
| ENST00000453906.6:c.407-5597G>A | ENSP00000403035.2:n.407-5597G>A | |
| ENST00000520680.2:c.748G>A | ENSP00000428785.2:p.Gly250Arg | |
| ENST00000521065.2:c.*465G>A | ENSP00000427947.2:n.*465G>A | |
| ENST00000521517.6:c.748G>A | ENSP00000430740.2:p.Gly250Arg | |
| ENST00000681998.1:c.678G>A | ENSP00000506773.1:n.678G>A | |
| ENST00000682036.1:c.407-5597G>A | ENSP00000508390.1:n.407-5597G>A | |
| ENST00000682577.1:c.678G>A | ENSP00000506963.1:n.678G>A | |
| ENST00000682624.1:c.*322G>A | ENSP00000508343.1:n.*322G>A | |
| ENST00000682700.1:c.748G>A | ENSP00000507627.1:p.Gly250Arg | |
| ENST00000682744.1:n.286G>A | ||
| ENST00000682804.1:n.571G>A | ||
| ENST00000682837.1:c.503G>A | ENSP00000507920.1:p.Trp168Ter | |
| ENST00000682935.1:n.2308G>A | ||
| ENST00000682984.1:c.409G>A | ENSP00000507209.1:p.Gly137Arg | |
| ENST00000683078.1:c.503G>A | ENSP00000506796.1:p.Trp168Ter | |
| ENST00000683223.1:c.589G>A | ENSP00000507685.1:n.589G>A | |
| ENST00000683238.1:n.2129G>A | ||
| ENST00000683249.1:n.2329G>A | ||
| ENST00000683336.1:c.678G>A | ENSP00000507695.1:n.678G>A | |
| ENST00000683362.1:c.409G>A | ENSP00000506985.1:p.Gly137Arg | |
| ENST00000683850.1:n.671G>A | ||
| ENST00000683919.1:c.678G>A | ENSP00000507617.1:n.678G>A | |
| ENST00000683953.1:c.659G>A | ENSP00000508375.1:n.659G>A | |
| ENST00000684023.1:c.882G>A | ENSP00000507461.1:n.882G>A | |
| ENST00000684064.1:c.439G>A | ENSP00000508192.1:p.Gly147Arg | |
| ENST00000684089.1:n.2298G>A | ||
| ENST00000684149.1:c.*84G>A | ENSP00000507943.1:n.*84G>A | |
| ENST00000684416.1:n.707G>A | ||
| ENST00000684540.1:c.678G>A | ENSP00000507987.1:n.678G>A | |
| ENST00000453321.8:c.748G>A MANE Select | ENSP00000389998.3:p.Gly250Arg | |
| ENST00000323130.7:c.718G>A | ENSP00000314488.3:p.Gly240Arg | |
| ENST00000409623.7:c.505G>A | ENSP00000386966.3:p.Gly169Arg | |
| ENST00000425545.2:n.195G>A | ||
| ENST00000452276.5:c.439G>A | ENSP00000388671.1:p.Gly147Arg | |
| ENST00000453321.7:c.748G>A | ENSP00000389998.3:p.Gly250Arg | |
| ENST00000453906.5:c.407-5597G>A | ENSP00000403035.1:n.407-5597G>A | |
| ENST00000474944.5:n.427-5597G>A | ||
| ENST00000496213.5:n.213G>A | ||
| NM_001142301.1:c.505G>A , LRG_688t2:c.505G>A | NP_001135773.1:p.Gly169Arg | |
| NM_153704.5:c.748G>A , LRG_688t1:c.748G>A | NP_714915.3:p.Gly250Arg | |
| NR_024522.1:n.819G>A | ||
| XM_006716686.2:c.445G>A | XP_006716749.1:p.Gly149Arg | |
| XM_006716687.2:c.148G>A | XP_006716750.1:p.Gly50Arg | |
| XM_011517363.1:c.407-5597G>A | XP_011515665.1:n.407-5597G>A | |
| XR_428387.1:n.806G>A | ||
| XR_928360.1:n.806G>A | ||
| XR_928361.1:n.806G>A | ||
| XR_928362.1:n.806G>A | ||
| XM_006716686.4:c.445G>A | XP_006716749.1:p.Gly149Arg | |
| XM_011517363.3:c.407-5597G>A | XP_011515665.1:n.407-5597G>A | |
| XM_024447326.1:c.94G>A | XP_024303094.1:p.Gly32Arg | |
| XR_001745619.2:n.789G>A | ||
| XR_428387.2:n.789G>A | ||
| XR_928360.3:n.789G>A | ||
| XR_928362.3:n.789G>A | ||
| NM_153704.6:c.748G>A MANE Select | NP_714915.3:p.Gly250Arg | |
| NR_024522.2:n.769G>A |