Linked Data
ClinVar Variation Id:
499502
dbSNP Id:
rs199648498
ExAC:
20:60856896 A / G
gnomAD v2:
20-60856896-A-G
gnomAD v3:
20-62281840-A-G
gnomAD v4:
20-62281840-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62281840A>G , CM000682.2:g.62281840A>G | GRCh38 |
| NC_000020.10:g.60856896A>G , CM000682.1:g.60856896A>G | GRCh37 |
| NC_000020.9:g.60290291A>G | NCBI36 |
| NG_042164.1:g.48356A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313733.9:c.833A>G MANE Select | ENSP00000316649.3:p.Lys278Arg | |
| ENST00000642516.1:c.833A>G | ENSP00000494756.1:p.Lys278Arg | |
| ENST00000642714.1:c.690A>G | ||
| ENST00000642932.1:c.*839A>G | ENSP00000495393.1:n.*839A>G | |
| ENST00000643174.1:c.*625A>G | ENSP00000493721.1:n.*625A>G | |
| ENST00000643412.1:c.833A>G | ENSP00000494549.1:p.Lys278Arg | |
| ENST00000643981.1:c.833A>G | ENSP00000495379.1:p.Lys278Arg | |
| ENST00000644189.1:c.833A>G | ENSP00000495359.1:p.Lys278Arg | |
| ENST00000644535.1:c.833A>G | ENSP00000495676.1:p.Lys278Arg | |
| ENST00000644702.1:c.737A>G | ENSP00000494264.1:p.Lys246Arg | |
| ENST00000644775.1:c.632A>G | ENSP00000495955.1:p.Lys211Arg | |
| ENST00000645426.1:c.*959A>G | ENSP00000495812.1:n.*959A>G | |
| ENST00000645442.1:c.557A>G | ENSP00000494921.1:p.Lys186Arg | |
| ENST00000645520.1:c.557A>G | ENSP00000495166.1:p.Lys186Arg | |
| ENST00000646834.1:c.*346A>G | ENSP00000494692.1:n.*346A>G | |
| ENST00000646968.1:c.*255A>G | ENSP00000495611.1:n.*255A>G | |
| ENST00000313733.7:c.833A>G | ENSP00000316649.3:p.Lys278Arg | |
| ENST00000358053.3:c.797A>G | ENSP00000350755.2:p.Lys266Arg | |
| ENST00000439951.6:c.557A>G | ENSP00000397602.2:p.Lys186Arg | |
| ENST00000618198.4:n.440A>G | ||
| ENST00000620616.1:n.1847A>G | ||
| ENST00000621075.1:n.395A>G | ||
| NM_001278649.1:c.557A>G | NP_001265578.1:p.Lys186Arg | |
| NM_014835.3:c.797A>G | NP_055650.1:p.Lys266Arg | |
| NM_144498.2:c.833A>G | NP_653081.1:p.Lys278Arg | |
| XM_011529117.1:c.833A>G | XP_011527419.1:p.Lys278Arg | |
| XM_011529118.1:c.833A>G | XP_011527420.1:p.Lys278Arg | |
| XM_011529119.1:c.557A>G | XP_011527421.1:p.Lys186Arg | |
| XM_011529120.1:c.557A>G | XP_011527422.1:p.Lys186Arg | |
| XR_936667.1:n.1074A>G | ||
| NM_001363878.1:c.557A>G | NP_001350807.1:p.Lys186Arg | |
| XM_017028163.2:c.833A>G | XP_016883652.1:p.Lys278Arg | |
| XM_017028164.1:c.833A>G | XP_016883653.1:p.Lys278Arg | |
| XM_017028165.1:c.833A>G | XP_016883654.1:p.Lys278Arg | |
| XM_017028166.1:c.557A>G | XP_016883655.1:p.Lys186Arg | |
| XM_017028168.2:c.833A>G | XP_016883657.1:p.Lys278Arg | |
| XM_017028169.1:c.269A>G | XP_016883658.1:p.Lys90Arg | |
| XM_017028170.1:c.269A>G | XP_016883659.1:p.Lys90Arg | |
| NM_001278649.2:c.557A>G | NP_001265578.1:p.Lys186Arg | |
| NM_014835.4:c.797A>G | NP_055650.1:p.Lys266Arg | |
| NM_144498.4:c.833A>G MANE Select | NP_653081.1:p.Lys278Arg | |
| NM_001278649.3:c.557A>G | NP_001265578.1:p.Lys186Arg | |
| NM_001363878.2:c.557A>G | NP_001350807.1:p.Lys186Arg | |
| NM_014835.5:c.797A>G | NP_055650.1:p.Lys266Arg |