Linked Data
ClinVar Variation Id:
13969
ClinVar RCV Id:
RCV000015003
RCV000030948
RCV000033333
RCV000208539
RCV000419516
RCV000426915
RCV000437189
RCV000505705
RCV001813207
RCV002271369
RCV002513056
dbSNP Id:
rs121913369
COSMIC:
COSM470
PubMed:
PMID:12068308
PMID:12460918
PMID:12460919
PMID:12960123
PMID:15035987
PMID:19010912
PMID:19206169
PMID:19238210
PMID:20301303
PMID:21483012
PMID:22649091
PMID:22798288
PMID:22805292
PMID:22892241
PMID:23093928
PMID:23715574
PMID:23833300
PMID:25157968
CIViC:
CA123651
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753346G>C , CM000669.2:g.140753346G>C | GRCh38 |
| NC_000007.13:g.140453146G>C , CM000669.1:g.140453146G>C | GRCh37 |
| NC_000007.12:g.140099615G>C | NCBI36 |
| NG_007873.3:g.176419C>G , LRG_299:g.176419C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1789C>G MANE Select | ENSP00000493543.1:p.Leu597Val | |
| ENST00000288602.11:c.1909C>G | ENSP00000288602.7:p.Leu637Val | |
| ENST00000479537.6:c.459C>G | ||
| ENST00000496384.7:c.1789C>G | ENSP00000419060.2:p.Leu597Val | |
| ENST00000497784.2:c.*1239C>G | ENSP00000420119.2:n.*1239C>G | |
| ENST00000642228.1:c.*867C>G | ENSP00000493678.1:n.*867C>G | |
| ENST00000642875.1:n.1259-3928C>G | ||
| ENST00000644120.1:n.2179C>G | ||
| ENST00000644650.1:c.885C>G | ||
| ENST00000644905.1:n.2671C>G | ||
| ENST00000644969.2:c.1909C>G MANE Plus Clinical | ENSP00000496776.1:p.Leu637Val | |
| ENST00000646730.1:c.*365C>G | ENSP00000494784.1:n.*365C>G | |
| ENST00000646891.1:c.1789C>G | ENSP00000493543.1:p.Leu597Val | |
| ENST00000647434.1:c.738-3928C>G | ENSP00000495132.1:n.738-3928C>G | |
| ENST00000288602.10:c.1789C>G | ENSP00000288602.6:p.Leu597Val | |
| ENST00000479537.5:c.73C>G | ENSP00000418033.1:p.Leu25Val | |
| ENST00000496384.6:c.612C>G | ||
| ENST00000497784.1:c.1824C>G | ENSP00000420119.1:n.1824C>G | |
| NM_004333.4:c.1789C>G , LRG_299t1:c.1789C>G | NP_004324.2:p.Leu597Val | |
| XM_005250045.1:c.1789C>G | XP_005250102.1:p.Leu597Val | |
| XM_005250046.1:c.1789C>G | XP_005250103.1:p.Leu597Val | |
| XM_011516529.1:c.1789C>G | XP_011514831.1:p.Leu597Val | |
| XM_011516530.1:c.1695-3928C>G | XP_011514832.1:n.1695-3928C>G | |
| XR_242190.1:n.1797C>G | ||
| XR_927520.1:n.1797C>G | ||
| XR_927521.1:n.1797C>G | ||
| XR_927522.1:n.1703-3928C>G | ||
| XR_927523.1:n.1703-3928C>G | ||
| NM_001354609.1:c.1789C>G | NP_001341538.1:p.Leu597Val | |
| NM_004333.5:c.1789C>G | NP_004324.2:p.Leu597Val | |
| NR_148928.1:n.2887C>G | ||
| XM_017012558.1:c.1909C>G | XP_016868047.1:p.Leu637Val | |
| XM_017012559.1:c.1909C>G | XP_016868048.1:p.Leu637Val | |
| XR_001744857.1:n.1917C>G | ||
| XR_001744858.1:n.1823-3928C>G | ||
| NM_001354609.2:c.1789C>G | NP_001341538.1:p.Leu597Val | |
| NM_001374244.1:c.1909C>G | NP_001361173.1:p.Leu637Val | |
| NM_001374258.1:c.1909C>G MANE Plus Clinical | NP_001361187.1:p.Leu637Val | |
| NM_004333.6:c.1789C>G MANE Select | NP_004324.2:p.Leu597Val | |
| NM_001378467.1:c.1798C>G | NP_001365396.1:p.Leu600Val | |
| NM_001378468.1:c.1789C>G | NP_001365397.1:p.Leu597Val | |
| NM_001378469.1:c.1723C>G | NP_001365398.1:p.Leu575Val | |
| NM_001378470.1:c.1687C>G | NP_001365399.1:p.Leu563Val | |
| NM_001378471.1:c.1678C>G | NP_001365400.1:p.Leu560Val | |
| NM_001378472.1:c.1633C>G | NP_001365401.1:p.Leu545Val | |
| NM_001378473.1:c.1633C>G | NP_001365402.1:p.Leu545Val | |
| NM_001378474.1:c.1789C>G | NP_001365403.1:p.Leu597Val | |
| NM_001378475.1:c.1525C>G | NP_001365404.1:p.Leu509Val |