Linked Data
ClinVar Variation Id:
1449
ClinVar RCV Id:
RCV000001514
dbSNP Id:
rs118204098
PubMed:
PMID:1714233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119090213G>A , CM000673.2:g.119090213G>A | GRCh38 |
| NC_000011.9:g.118960923G>A , CM000673.1:g.118960923G>A | GRCh37 |
| NC_000011.8:g.118466133G>A | NCBI36 |
| NG_008093.1:g.10337G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.281G>A | ENSP00000509288.1:p.Arg94Gln | |
| ENST00000686690.1:n.1296G>A | ||
| ENST00000691144.1:n.2187G>A | ||
| ENST00000691249.1:n.1030G>A | ||
| ENST00000442944.7:c.428G>A | ENSP00000392041.3:p.Arg143Gln | |
| ENST00000534956.2:n.395G>A | ||
| ENST00000536813.6:c.395G>A | ENSP00000438726.2:p.Arg132Gln | |
| ENST00000546302.6:c.368G>A | ENSP00000445599.1:p.Arg123Gln | |
| ENST00000640813.1:c.395G>A | ENSP00000491061.1:p.Arg132Gln | |
| ENST00000648026.1:c.440G>A | ENSP00000498044.1:p.Arg147Gln | |
| ENST00000648374.1:c.395G>A | ENSP00000497255.1:p.Arg132Gln | |
| ENST00000648488.1:c.395G>A | ENSP00000498079.1:p.Arg132Gln | |
| ENST00000649823.1:n.663G>A | ||
| ENST00000649868.1:c.*154G>A | ENSP00000497548.1:n.*154G>A | |
| ENST00000650101.1:c.377G>A | ENSP00000496970.1:p.Arg126Gln | |
| ENST00000650307.1:n.1272G>A | ||
| ENST00000652429.1:c.446G>A MANE Select | ENSP00000498786.1:p.Arg149Gln | |
| ENST00000278715.7:c.446G>A | ENSP00000278715.3:p.Arg149Gln | |
| ENST00000392841.1:c.395G>A | ENSP00000376584.1:p.Arg132Gln | |
| ENST00000442944.6:c.395G>A | ENSP00000392041.2:p.Arg132Gln | |
| ENST00000534956.1:n.362G>A | ||
| ENST00000535253.5:c.395G>A | ENSP00000442079.1:p.Arg132Gln | |
| ENST00000535793.5:c.*341G>A | ENSP00000439904.1:n.*341G>A | |
| ENST00000537841.5:c.395G>A | ENSP00000444730.1:p.Arg132Gln | |
| ENST00000539986.5:c.395G>A | ENSP00000440092.1:p.Arg132Gln | |
| ENST00000542044.5:n.891G>A | ||
| ENST00000542345.5:n.584G>A | ||
| ENST00000542729.5:c.395G>A | ENSP00000443058.1:p.Arg132Gln | |
| ENST00000542822.5:c.*382G>A | ENSP00000444817.1:n.*382G>A | |
| ENST00000543090.5:c.392G>A | ENSP00000445429.1:p.Arg131Gln | |
| ENST00000543543.5:n.681G>A | ||
| ENST00000544360.5:n.414G>A | ||
| ENST00000544387.5:c.446G>A | ENSP00000438424.1:p.Arg149Gln | |
| ENST00000545621.5:c.*341G>A | ENSP00000444849.1:n.*341G>A | |
| ENST00000546226.5:n.734G>A | ||
| ENST00000546302.5:c.368G>A | ENSP00000445599.1:p.Arg123Gln | |
| NM_000190.3:c.446G>A | NP_000181.2:p.Arg149Gln | |
| NM_001024382.1:c.395G>A | NP_001019553.1:p.Arg132Gln | |
| NM_001258208.1:c.446G>A | NP_001245137.1:p.Arg149Gln | |
| NM_001258209.1:c.395G>A | NP_001245138.1:p.Arg132Gln | |
| XM_005271531.1:c.395G>A | XP_005271588.1:p.Arg132Gln | |
| XM_005271532.1:c.395G>A | XP_005271589.1:p.Arg132Gln | |
| XM_005271533.2:c.392G>A | XP_005271590.1:p.Arg131Gln | |
| XM_011542796.1:c.281G>A | XP_011541098.1:p.Arg94Gln | |
| NM_000190.4:c.446G>A MANE Select | NP_000181.2:p.Arg149Gln | |
| NM_001024382.2:c.395G>A | NP_001019553.1:p.Arg132Gln | |
| XM_005271533.3:c.392G>A | XP_005271590.1:p.Arg131Gln | |
| XM_017017629.1:c.395G>A | XP_016873118.1:p.Arg132Gln | |
| XM_024448460.1:c.392G>A | XP_024304228.1:p.Arg131Gln | |
| NM_001258208.2:c.446G>A | NP_001245137.1:p.Arg149Gln | |
| NM_001258209.2:c.395G>A | NP_001245138.1:p.Arg132Gln |