Linked Data
ClinVar Variation Id:
76687
dbSNP Id:
rs121913366
gnomAD v4:
7-140753345-A-T
COSMIC:
COSM1125
PubMed:
PMID:2493360
PMID:12068308
PMID:12460918
PMID:12460919
PMID:19010912
PMID:19238210
PMID:21483012
PMID:22649091
PMID:22798288
PMID:22805292
PMID:23715574
PMID:23833300
PMID:25157968
PMID:26619011
CIViC:
CA16602257
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753345A>T , CM000669.2:g.140753345A>T | GRCh38 |
| NC_000007.13:g.140453145A>T , CM000669.1:g.140453145A>T | GRCh37 |
| NC_000007.12:g.140099614A>T | NCBI36 |
| NG_007873.3:g.176420T>A , LRG_299:g.176420T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1790T>A MANE Select | ENSP00000493543.1:p.Leu597Gln | |
| ENST00000288602.11:c.1910T>A | ENSP00000288602.7:p.Leu637Gln | |
| ENST00000479537.6:c.460T>A | ||
| ENST00000496384.7:c.1790T>A | ENSP00000419060.2:p.Leu597Gln | |
| ENST00000497784.2:c.*1240T>A | ENSP00000420119.2:n.*1240T>A | |
| ENST00000642228.1:c.*868T>A | ENSP00000493678.1:n.*868T>A | |
| ENST00000642875.1:n.1259-3927T>A | ||
| ENST00000644120.1:n.2180T>A | ||
| ENST00000644650.1:c.886T>A | ||
| ENST00000644905.1:n.2672T>A | ||
| ENST00000644969.2:c.1910T>A MANE Plus Clinical | ENSP00000496776.1:p.Leu637Gln | |
| ENST00000646730.1:c.*366T>A | ENSP00000494784.1:n.*366T>A | |
| ENST00000646891.1:c.1790T>A | ENSP00000493543.1:p.Leu597Gln | |
| ENST00000647434.1:c.738-3927T>A | ENSP00000495132.1:n.738-3927T>A | |
| ENST00000288602.10:c.1790T>A | ENSP00000288602.6:p.Leu597Gln | |
| ENST00000479537.5:c.74T>A | ENSP00000418033.1:p.Leu25Gln | |
| ENST00000496384.6:c.613T>A | ||
| ENST00000497784.1:c.1825T>A | ENSP00000420119.1:n.1825T>A | |
| NM_004333.4:c.1790T>A , LRG_299t1:c.1790T>A | NP_004324.2:p.Leu597Gln | |
| XM_005250045.1:c.1790T>A | XP_005250102.1:p.Leu597Gln | |
| XM_005250046.1:c.1790T>A | XP_005250103.1:p.Leu597Gln | |
| XM_011516529.1:c.1790T>A | XP_011514831.1:p.Leu597Gln | |
| XM_011516530.1:c.1695-3927T>A | XP_011514832.1:n.1695-3927T>A | |
| XR_242190.1:n.1798T>A | ||
| XR_927520.1:n.1798T>A | ||
| XR_927521.1:n.1798T>A | ||
| XR_927522.1:n.1703-3927T>A | ||
| XR_927523.1:n.1703-3927T>A | ||
| NM_001354609.1:c.1790T>A | NP_001341538.1:p.Leu597Gln | |
| NM_004333.5:c.1790T>A | NP_004324.2:p.Leu597Gln | |
| NR_148928.1:n.2888T>A | ||
| XM_017012558.1:c.1910T>A | XP_016868047.1:p.Leu637Gln | |
| XM_017012559.1:c.1910T>A | XP_016868048.1:p.Leu637Gln | |
| XR_001744857.1:n.1918T>A | ||
| XR_001744858.1:n.1823-3927T>A | ||
| NM_001354609.2:c.1790T>A | NP_001341538.1:p.Leu597Gln | |
| NM_001374244.1:c.1910T>A | NP_001361173.1:p.Leu637Gln | |
| NM_001374258.1:c.1910T>A MANE Plus Clinical | NP_001361187.1:p.Leu637Gln | |
| NM_004333.6:c.1790T>A MANE Select | NP_004324.2:p.Leu597Gln | |
| NM_001378467.1:c.1799T>A | NP_001365396.1:p.Leu600Gln | |
| NM_001378468.1:c.1790T>A | NP_001365397.1:p.Leu597Gln | |
| NM_001378469.1:c.1724T>A | NP_001365398.1:p.Leu575Gln | |
| NM_001378470.1:c.1688T>A | NP_001365399.1:p.Leu563Gln | |
| NM_001378471.1:c.1679T>A | NP_001365400.1:p.Leu560Gln | |
| NM_001378472.1:c.1634T>A | NP_001365401.1:p.Leu545Gln | |
| NM_001378473.1:c.1634T>A | NP_001365402.1:p.Leu545Gln | |
| NM_001378474.1:c.1790T>A | NP_001365403.1:p.Leu597Gln | |
| NM_001378475.1:c.1526T>A | NP_001365404.1:p.Leu509Gln |