Linked Data
ClinVar Variation Id:
1380427
ClinVar RCV Id:
RCV001892248
dbSNP Id:
rs1568776699
gnomAD v4:
20-36930780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36930780G>A , CM000682.2:g.36930780G>A | GRCh38 |
| NC_000020.10:g.35559183G>A , CM000682.1:g.35559183G>A | GRCh37 |
| NC_000020.9:g.34992597G>A | NCBI36 |
| NG_017059.1:g.26064C>T , LRG_281:g.26064C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644114.2:c.605C>T | ENSP00000494354.2:p.Ala202Val | |
| ENST00000644250.2:c.605C>T | ENSP00000493810.2:p.Ala202Val | |
| ENST00000644688.2:n.667C>T | ||
| ENST00000645444.2:c.605C>T | ENSP00000495381.2:p.Ala202Val | |
| ENST00000682773.1:c.605C>T | ENSP00000507178.1:p.Ala202Val | |
| ENST00000683720.1:c.605C>T | ENSP00000508219.1:p.Ala202Val | |
| ENST00000683766.1:c.605C>T | ENSP00000506877.1:p.Ala202Val | |
| ENST00000262878.5:c.605C>T | ENSP00000262878.5:p.Ala202Val | |
| ENST00000642186.1:c.605C>T | ENSP00000494436.1:p.Ala202Val | |
| ENST00000642246.1:c.*284C>T | ENSP00000494979.1:n.*284C>T | |
| ENST00000642616.1:c.*82C>T | ENSP00000494271.1:n.*82C>T | |
| ENST00000643078.1:c.*284C>T | ENSP00000496474.1:n.*284C>T | |
| ENST00000643161.1:n.168C>T | ||
| ENST00000643918.1:c.605C>T | ENSP00000493928.1:p.Ala202Val | |
| ENST00000644114.1:c.531C>T | ||
| ENST00000645033.1:c.605C>T | ENSP00000494520.1:p.Ala202Val | |
| ENST00000645444.1:c.373C>T | ||
| ENST00000646066.1:c.605C>T | ENSP00000495432.1:p.Ala202Val | |
| ENST00000646121.1:c.322C>T | ||
| ENST00000646673.2:c.605C>T MANE Select | ENSP00000493536.2:p.Ala202Val | |
| ENST00000646866.1:c.*54C>T | ENSP00000495737.1:n.*54C>T | |
| ENST00000646869.1:c.605C>T | ENSP00000495667.1:p.Ala202Val | |
| ENST00000646904.1:c.605C>T | ENSP00000494823.1:p.Ala202Val | |
| ENST00000647095.1:n.676C>T | ||
| ENST00000647163.1:c.605C>T | ENSP00000494313.1:p.Ala202Val | |
| ENST00000647459.1:n.632C>T | ||
| ENST00000262878.4:c.605C>T | ENSP00000262878.4:p.Ala202Val | |
| NM_015474.3:c.605C>T , LRG_281t1:c.605C>T | NP_056289.2:p.Ala202Val | |
| XM_005260384.2:c.605C>T | XP_005260441.1:p.Ala202Val | |
| XM_011528761.1:c.605C>T | XP_011527063.1:p.Ala202Val | |
| NM_001363729.1:c.605C>T | NP_001350658.1:p.Ala202Val | |
| NM_001363733.1:c.605C>T | NP_001350662.1:p.Ala202Val | |
| NM_001363729.2:c.605C>T | NP_001350658.1:p.Ala202Val | |
| NM_001363733.2:c.605C>T | NP_001350662.1:p.Ala202Val | |
| NM_015474.4:c.605C>T MANE Select | NP_056289.2:p.Ala202Val |