Linked Data
ClinVar Variation Id:
1416234
ClinVar RCV Id:
RCV001921194
dbSNP Id:
rs75165625
ExAC:
8:94798514 G / A
gnomAD v2:
8-94798514-G-A
gnomAD v3:
8-93786286-G-A
gnomAD v4:
8-93786286-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93786286G>A , CM000670.2:g.93786286G>A | GRCh38 |
| NC_000008.10:g.94798514G>A , CM000670.1:g.94798514G>A | GRCh37 |
| NC_000008.9:g.94867690G>A | NCBI36 |
| NG_009190.1:g.36443G>A , LRG_688:g.36443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.1352G>A | ENSP00000314488.4:p.Arg451Gln | |
| ENST00000409623.8:c.1307G>A | ENSP00000386966.4:p.Arg436Gln | |
| ENST00000452276.6:c.1352G>A | ENSP00000388671.2:p.Arg451Gln | |
| ENST00000453906.6:c.470G>A | ENSP00000403035.2:p.Arg157Gln | |
| ENST00000520680.2:c.1352G>A | ENSP00000428785.2:p.Arg451Gln | |
| ENST00000521517.6:c.1352G>A | ENSP00000430740.2:p.Arg451Gln | |
| ENST00000681998.1:c.1173G>A | ENSP00000506773.1:n.1173G>A | |
| ENST00000682036.1:c.470G>A | ENSP00000508390.1:p.Arg157Gln | |
| ENST00000682577.1:c.1125G>A | ENSP00000506963.1:n.1125G>A | |
| ENST00000682624.1:c.*926G>A | ENSP00000508343.1:n.*926G>A | |
| ENST00000682700.1:c.1352G>A | ENSP00000507627.1:p.Arg451Gln | |
| ENST00000682744.1:n.890G>A | ||
| ENST00000682804.1:n.1175G>A | ||
| ENST00000682837.1:c.841G>A | ENSP00000507920.1:n.841G>A | |
| ENST00000682935.1:n.3402G>A | ||
| ENST00000682984.1:c.1013G>A | ENSP00000507209.1:p.Arg338Gln | |
| ENST00000683078.1:c.1107G>A | ENSP00000506796.1:n.1107G>A | |
| ENST00000683223.1:c.1084G>A | ENSP00000507685.1:n.1084G>A | |
| ENST00000683238.1:n.2576G>A | ||
| ENST00000683249.1:n.2949G>A | ||
| ENST00000683336.1:c.1173G>A | ENSP00000507695.1:n.1173G>A | |
| ENST00000683362.1:c.1013G>A | ENSP00000506985.1:p.Arg338Gln | |
| ENST00000683850.1:n.1275G>A | ||
| ENST00000683919.1:c.1282G>A | ENSP00000507617.1:n.1282G>A | |
| ENST00000683953.1:c.1263G>A | ENSP00000508375.1:n.1263G>A | |
| ENST00000684023.1:c.1329G>A | ENSP00000507461.1:n.1329G>A | |
| ENST00000684064.1:c.1043G>A | ENSP00000508192.1:p.Arg348Gln | |
| ENST00000684089.1:n.2902G>A | ||
| ENST00000684149.1:c.*531G>A | ENSP00000507943.1:n.*531G>A | |
| ENST00000684416.1:n.1311G>A | ||
| ENST00000684540.1:c.1282G>A | ENSP00000507987.1:n.1282G>A | |
| ENST00000453321.8:c.1352G>A MANE Select | ENSP00000389998.3:p.Arg451Gln | |
| ENST00000323130.7:c.1322G>A | ENSP00000314488.3:p.Arg441Gln | |
| ENST00000409623.7:c.1109G>A | ENSP00000386966.3:p.Arg370Gln | |
| ENST00000452276.5:c.1043G>A | ENSP00000388671.1:p.Arg348Gln | |
| ENST00000453321.7:c.1352G>A | ENSP00000389998.3:p.Arg451Gln | |
| ENST00000453906.5:c.470G>A | ENSP00000403035.1:p.Arg157Gln | |
| ENST00000474944.5:n.490G>A | ||
| ENST00000520680.1:c.174G>A | ||
| NM_001142301.1:c.1109G>A , LRG_688t2:c.1109G>A | NP_001135773.1:p.Arg370Gln | |
| NM_153704.5:c.1352G>A , LRG_688t1:c.1352G>A | NP_714915.3:p.Arg451Gln | |
| NR_024522.1:n.1423G>A | ||
| XM_006716686.2:c.1049G>A | XP_006716749.1:p.Arg350Gln | |
| XM_006716687.2:c.752G>A | XP_006716750.1:p.Arg251Gln | |
| XM_011517363.1:c.470G>A | XP_011515665.1:p.Arg157Gln | |
| XR_428387.1:n.1410G>A | ||
| XR_928360.1:n.1410G>A | ||
| XR_928361.1:n.1410G>A | ||
| XR_928362.1:n.1410G>A | ||
| XM_006716686.4:c.1049G>A | XP_006716749.1:p.Arg350Gln | |
| XM_011517363.3:c.470G>A | XP_011515665.1:p.Arg157Gln | |
| XM_024447326.1:c.698G>A | XP_024303094.1:p.Arg233Gln | |
| XR_001745619.2:n.1393G>A | ||
| XR_428387.2:n.1393G>A | ||
| XR_928360.3:n.1393G>A | ||
| XR_928362.3:n.1393G>A | ||
| NM_153704.6:c.1352G>A MANE Select | NP_714915.3:p.Arg451Gln | |
| NR_024522.2:n.1373G>A |