Linked Data
ClinVar Variation Id:
4067
dbSNP Id:
rs121434517
ExAC:
20:35563508 G / A
gnomAD v2:
20-35563508-G-A
gnomAD v3:
20-36935105-G-A
gnomAD v4:
20-36935105-G-A
COSMIC:
COSM5741866
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36935105G>A , CM000682.2:g.36935105G>A | GRCh38 |
| NC_000020.10:g.35563508G>A , CM000682.1:g.35563508G>A | GRCh37 |
| NC_000020.9:g.34996922G>A | NCBI36 |
| NG_017059.1:g.21739C>T , LRG_281:g.21739C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644114.2:c.433C>T | ENSP00000494354.2:p.Arg145Ter | |
| ENST00000644250.2:c.433C>T | ENSP00000493810.2:p.Arg145Ter | |
| ENST00000644688.2:n.495C>T | ||
| ENST00000645444.2:c.433C>T | ENSP00000495381.2:p.Arg145Ter | |
| ENST00000682773.1:c.433C>T | ENSP00000507178.1:p.Arg145Ter | |
| ENST00000683720.1:c.433C>T | ENSP00000508219.1:p.Arg145Ter | |
| ENST00000683766.1:c.433C>T | ENSP00000506877.1:p.Arg145Ter | |
| ENST00000262878.5:c.433C>T | ENSP00000262878.5:p.Arg145Ter | |
| ENST00000642186.1:c.433C>T | ENSP00000494436.1:p.Arg145Ter | |
| ENST00000642246.1:c.*112C>T | ENSP00000494979.1:n.*112C>T | |
| ENST00000642616.1:c.433C>T | ENSP00000494271.1:p.Arg145Ter | |
| ENST00000643003.1:n.99C>T | ||
| ENST00000643078.1:c.*112C>T | ENSP00000496474.1:n.*112C>T | |
| ENST00000643918.1:c.433C>T | ENSP00000493928.1:p.Arg145Ter | |
| ENST00000644114.1:c.359C>T | ||
| ENST00000644370.1:n.374C>T | ||
| ENST00000645033.1:c.433C>T | ENSP00000494520.1:p.Arg145Ter | |
| ENST00000645444.1:c.201C>T | ||
| ENST00000646066.1:c.433C>T | ENSP00000495432.1:p.Arg145Ter | |
| ENST00000646121.1:c.227-4230C>T | ||
| ENST00000646673.2:c.433C>T MANE Select | ENSP00000493536.2:p.Arg145Ter | |
| ENST00000646866.1:c.349-4230C>T | ENSP00000495737.1:n.349-4230C>T | |
| ENST00000646869.1:c.433C>T | ENSP00000495667.1:p.Arg145Ter | |
| ENST00000646904.1:c.433C>T | ENSP00000494823.1:p.Arg145Ter | |
| ENST00000647095.1:n.504C>T | ||
| ENST00000647163.1:c.433C>T | ENSP00000494313.1:p.Arg145Ter | |
| ENST00000647459.1:n.460C>T | ||
| ENST00000262878.4:c.433C>T | ENSP00000262878.4:p.Arg145Ter | |
| NM_015474.3:c.433C>T , LRG_281t1:c.433C>T | NP_056289.2:p.Arg145Ter | |
| XM_005260384.2:c.433C>T | XP_005260441.1:p.Arg145Ter | |
| XM_011528761.1:c.433C>T | XP_011527063.1:p.Arg145Ter | |
| NM_001363729.1:c.433C>T | NP_001350658.1:p.Arg145Ter | |
| NM_001363733.1:c.433C>T | NP_001350662.1:p.Arg145Ter | |
| NM_001363729.2:c.433C>T | NP_001350658.1:p.Arg145Ter | |
| NM_001363733.2:c.433C>T | NP_001350662.1:p.Arg145Ter | |
| NM_015474.4:c.433C>T MANE Select | NP_056289.2:p.Arg145Ter |