Linked Data
ClinVar Variation Id:
496583
dbSNP Id:
rs774237195
gnomAD v3:
3-139348224-G-A
gnomAD v4:
3-139348224-G-A
PubMed:
PMID:29566152
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139348224G>A , CM000665.2:g.139348224G>A | GRCh38 |
| NC_000003.11:g.139067066G>A , CM000665.1:g.139067066G>A | GRCh37 |
| NC_000003.10:g.140549756G>A | NCBI36 |
| NG_012174.1:g.9206G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478464.6:c.194G>A | ENSP00000419303.2:p.Arg65Gln | |
| ENST00000480644.2:c.404G>A | ENSP00000420229.2:p.Arg135Gln | |
| ENST00000492644.2:n.418G>A | ||
| ENST00000684961.1:c.23G>A | ENSP00000508439.1:p.Arg8Gln | |
| ENST00000686433.1:c.404G>A | ENSP00000509173.1:p.Arg135Gln | |
| ENST00000687538.1:c.194G>A | ENSP00000508887.1:p.Arg65Gln | |
| ENST00000688697.1:c.404G>A | ENSP00000510396.1:p.Arg135Gln | |
| ENST00000689286.1:c.194G>A | ENSP00000509897.1:p.Arg65Gln | |
| ENST00000689925.1:c.194G>A | ENSP00000510082.1:p.Arg65Gln | |
| ENST00000690298.1:c.*45G>A | ENSP00000509376.1:n.*45G>A | |
| ENST00000691070.1:c.404G>A | ENSP00000509723.1:p.Arg135Gln | |
| ENST00000692727.1:n.418G>A | ||
| ENST00000693155.1:n.427G>A | ||
| ENST00000310776.9:c.401G>A | ENSP00000310785.5:p.Arg134Gln | |
| ENST00000680020.1:c.404G>A MANE Select | ENSP00000505414.1:p.Arg135Gln | |
| ENST00000310776.8:c.404G>A | ENSP00000310785.4:p.Arg135Gln | |
| ENST00000465056.5:c.401G>A | ENSP00000418233.1:p.Arg134Gln | |
| ENST00000465373.5:c.419G>A | ENSP00000419920.1:p.Arg140Gln | |
| ENST00000466690.5:c.390G>A | ||
| ENST00000478464.5:c.281G>A | ENSP00000419303.1:p.Arg94Gln | |
| ENST00000480938.5:n.404G>A | ||
| ENST00000483545.1:n.144G>A | ||
| ENST00000486705.1:n.315G>A | ||
| ENST00000495075.5:c.404G>A | ENSP00000418008.1:p.Arg135Gln | |
| ENST00000498505.5:c.401G>A | ENSP00000420482.1:p.Arg134Gln | |
| NM_020191.2:c.404G>A | NP_064576.1:p.Arg135Gln | |
| XM_005247640.2:c.401G>A | XP_005247697.1:p.Arg134Gln | |
| XM_006713703.2:c.404G>A | XP_006713766.1:p.Arg135Gln | |
| XM_011512995.1:c.281G>A | XP_011511297.1:p.Arg94Gln | |
| XM_011512996.1:c.278G>A | XP_011511298.1:p.Arg93Gln | |
| NM_001363857.1:c.281G>A | NP_001350786.1:p.Arg94Gln | |
| NM_001363893.1:c.401G>A | NP_001350822.1:p.Arg134Gln | |
| NM_020191.3:c.404G>A | NP_064576.1:p.Arg135Gln | |
| XM_006713703.4:c.404G>A | XP_006713766.1:p.Arg135Gln | |
| XM_011512996.2:c.278G>A | XP_011511298.1:p.Arg93Gln | |
| NM_020191.4:c.404G>A MANE Select | NP_064576.1:p.Arg135Gln |