Linked Data
ClinVar Variation Id:
1711064
ClinVar RCV Id:
RCV002292351
dbSNP Id:
rs2128998409
COSMIC:
COSM6475279
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753364T>C , CM000669.2:g.140753364T>C | GRCh38 |
| NC_000007.13:g.140453164T>C , CM000669.1:g.140453164T>C | GRCh37 |
| NC_000007.12:g.140099633T>C | NCBI36 |
| NG_007873.3:g.176401A>G , LRG_299:g.176401A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1771A>G MANE Select | ENSP00000493543.1:p.Lys591Glu | |
| ENST00000288602.11:c.1891A>G | ENSP00000288602.7:p.Lys631Glu | |
| ENST00000479537.6:c.441A>G | ||
| ENST00000496384.7:c.1771A>G | ENSP00000419060.2:p.Lys591Glu | |
| ENST00000497784.2:c.*1221A>G | ENSP00000420119.2:n.*1221A>G | |
| ENST00000642228.1:c.*849A>G | ENSP00000493678.1:n.*849A>G | |
| ENST00000642875.1:n.1259-3946A>G | ||
| ENST00000644120.1:n.2161A>G | ||
| ENST00000644650.1:c.867A>G | ||
| ENST00000644905.1:n.2653A>G | ||
| ENST00000644969.2:c.1891A>G MANE Plus Clinical | ENSP00000496776.1:p.Lys631Glu | |
| ENST00000646730.1:c.*347A>G | ENSP00000494784.1:n.*347A>G | |
| ENST00000646891.1:c.1771A>G | ENSP00000493543.1:p.Lys591Glu | |
| ENST00000647434.1:c.738-3946A>G | ENSP00000495132.1:n.738-3946A>G | |
| ENST00000288602.10:c.1771A>G | ENSP00000288602.6:p.Lys591Glu | |
| ENST00000479537.5:c.55A>G | ENSP00000418033.1:p.Lys19Glu | |
| ENST00000496384.6:c.594A>G | ||
| ENST00000497784.1:c.1806A>G | ENSP00000420119.1:n.1806A>G | |
| NM_004333.4:c.1771A>G , LRG_299t1:c.1771A>G | NP_004324.2:p.Lys591Glu | |
| XM_005250045.1:c.1771A>G | XP_005250102.1:p.Lys591Glu | |
| XM_005250046.1:c.1771A>G | XP_005250103.1:p.Lys591Glu | |
| XM_011516529.1:c.1771A>G | XP_011514831.1:p.Lys591Glu | |
| XM_011516530.1:c.1695-3946A>G | XP_011514832.1:n.1695-3946A>G | |
| XR_242190.1:n.1779A>G | ||
| XR_927520.1:n.1779A>G | ||
| XR_927521.1:n.1779A>G | ||
| XR_927522.1:n.1703-3946A>G | ||
| XR_927523.1:n.1703-3946A>G | ||
| NM_001354609.1:c.1771A>G | NP_001341538.1:p.Lys591Glu | |
| NM_004333.5:c.1771A>G | NP_004324.2:p.Lys591Glu | |
| NR_148928.1:n.2869A>G | ||
| XM_017012558.1:c.1891A>G | XP_016868047.1:p.Lys631Glu | |
| XM_017012559.1:c.1891A>G | XP_016868048.1:p.Lys631Glu | |
| XR_001744857.1:n.1899A>G | ||
| XR_001744858.1:n.1823-3946A>G | ||
| NM_001354609.2:c.1771A>G | NP_001341538.1:p.Lys591Glu | |
| NM_001374244.1:c.1891A>G | NP_001361173.1:p.Lys631Glu | |
| NM_001374258.1:c.1891A>G MANE Plus Clinical | NP_001361187.1:p.Lys631Glu | |
| NM_004333.6:c.1771A>G MANE Select | NP_004324.2:p.Lys591Glu | |
| NM_001378467.1:c.1780A>G | NP_001365396.1:p.Lys594Glu | |
| NM_001378468.1:c.1771A>G | NP_001365397.1:p.Lys591Glu | |
| NM_001378469.1:c.1705A>G | NP_001365398.1:p.Lys569Glu | |
| NM_001378470.1:c.1669A>G | NP_001365399.1:p.Lys557Glu | |
| NM_001378471.1:c.1660A>G | NP_001365400.1:p.Lys554Glu | |
| NM_001378472.1:c.1615A>G | NP_001365401.1:p.Lys539Glu | |
| NM_001378473.1:c.1615A>G | NP_001365402.1:p.Lys539Glu | |
| NM_001378474.1:c.1771A>G | NP_001365403.1:p.Lys591Glu | |
| NM_001378475.1:c.1507A>G | NP_001365404.1:p.Lys503Glu |