Linked Data
ClinVar Variation Id:
1559638
ClinVar RCV Id:
RCV002203003
dbSNP Id:
rs903077482
gnomAD v4:
20-36930872-C-G
MyVariant Identifiers:
chr20:g.35559275C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.36930872C>G , CM000682.2:g.36930872C>G | GRCh38 |
| NC_000020.10:g.35559275C>G , CM000682.1:g.35559275C>G | GRCh37 |
| NC_000020.9:g.34992689C>G | NCBI36 |
| NG_017059.1:g.25972G>C , LRG_281:g.25972G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644114.2:c.513G>C | ENSP00000494354.2:p.Val171= | |
| ENST00000644250.2:c.513G>C | ENSP00000493810.2:p.Val171= | |
| ENST00000644688.2:n.575G>C | ||
| ENST00000645444.2:c.513G>C | ENSP00000495381.2:p.Val171= | |
| ENST00000682773.1:c.513G>C | ENSP00000507178.1:p.Val171= | |
| ENST00000683720.1:c.513G>C | ENSP00000508219.1:p.Val171= | |
| ENST00000683766.1:c.513G>C | ENSP00000506877.1:p.Val171= | |
| ENST00000262878.5:c.513G>C | ENSP00000262878.5:p.Val171= | |
| ENST00000642186.1:c.513G>C | ENSP00000494436.1:p.Val171= | |
| ENST00000642246.1:c.*192G>C | ENSP00000494979.1:n.*192G>C | |
| ENST00000642616.1:c.461G>C | ENSP00000494271.1:p.Trp154Ser | |
| ENST00000643078.1:c.*192G>C | ENSP00000496474.1:n.*192G>C | |
| ENST00000643161.1:n.76G>C | ||
| ENST00000643918.1:c.513G>C | ENSP00000493928.1:p.Val171= | |
| ENST00000644114.1:c.439G>C | ||
| ENST00000644370.1:n.454G>C | ||
| ENST00000645033.1:c.513G>C | ENSP00000494520.1:p.Val171= | |
| ENST00000645444.1:c.281G>C | ||
| ENST00000646066.1:c.513G>C | ENSP00000495432.1:p.Val171= | |
| ENST00000646121.1:c.230G>C | ||
| ENST00000646673.2:c.513G>C MANE Select | ENSP00000493536.2:p.Val171= | |
| ENST00000646866.1:c.352G>C | ENSP00000495737.1:p.Gly118Arg | |
| ENST00000646869.1:c.513G>C | ENSP00000495667.1:p.Val171= | |
| ENST00000646904.1:c.513G>C | ENSP00000494823.1:p.Val171= | |
| ENST00000647095.1:n.584G>C | ||
| ENST00000647163.1:c.513G>C | ENSP00000494313.1:p.Val171= | |
| ENST00000647459.1:n.540G>C | ||
| ENST00000262878.4:c.513G>C | ENSP00000262878.4:p.Val171= | |
| NM_015474.3:c.513G>C , LRG_281t1:c.513G>C | NP_056289.2:p.Val171= | |
| XM_005260384.2:c.513G>C | XP_005260441.1:p.Val171= | |
| XM_011528761.1:c.513G>C | XP_011527063.1:p.Val171= | |
| NM_001363729.1:c.513G>C | NP_001350658.1:p.Val171= | |
| NM_001363733.1:c.513G>C | NP_001350662.1:p.Val171= | |
| NM_001363729.2:c.513G>C | NP_001350658.1:p.Val171= | |
| NM_001363733.2:c.513G>C | NP_001350662.1:p.Val171= | |
| NM_015474.4:c.513G>C MANE Select | NP_056289.2:p.Val171= |