Linked Data
ClinVar Variation Id:
375946
dbSNP Id:
rs121913338
COSMIC:
COSM466
PubMed:
PMID:12068308
PMID:12438234
PMID:14678966
PMID:14679157
PMID:15035987
PMID:19537845
PMID:20350999
PMID:21129611
PMID:22310681
PMID:25157968
ERepo:
CA16602425/MONDO:0021060/004
CIViC:
CA16602425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140753354T>A , CM000669.2:g.140753354T>A | GRCh38 |
| NC_000007.13:g.140453154T>A , CM000669.1:g.140453154T>A | GRCh37 |
| NC_000007.12:g.140099623T>A | NCBI36 |
| NG_007873.3:g.176411A>T , LRG_299:g.176411A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1781A>T MANE Select | ENSP00000493543.1:p.Asp594Val | |
| ENST00000288602.11:c.1901A>T | ENSP00000288602.7:p.Asp634Val | |
| ENST00000479537.6:c.451A>T | ||
| ENST00000496384.7:c.1781A>T | ENSP00000419060.2:p.Asp594Val | |
| ENST00000497784.2:c.*1231A>T | ENSP00000420119.2:n.*1231A>T | |
| ENST00000642228.1:c.*859A>T | ENSP00000493678.1:n.*859A>T | |
| ENST00000642875.1:n.1259-3936A>T | ||
| ENST00000644120.1:n.2171A>T | ||
| ENST00000644650.1:c.877A>T | ||
| ENST00000644905.1:n.2663A>T | ||
| ENST00000644969.2:c.1901A>T MANE Plus Clinical | ENSP00000496776.1:p.Asp634Val | |
| ENST00000646730.1:c.*357A>T | ENSP00000494784.1:n.*357A>T | |
| ENST00000646891.1:c.1781A>T | ENSP00000493543.1:p.Asp594Val | |
| ENST00000647434.1:c.738-3936A>T | ENSP00000495132.1:n.738-3936A>T | |
| ENST00000288602.10:c.1781A>T | ENSP00000288602.6:p.Asp594Val | |
| ENST00000479537.5:c.65A>T | ENSP00000418033.1:p.Asp22Val | |
| ENST00000496384.6:c.604A>T | ||
| ENST00000497784.1:c.1816A>T | ENSP00000420119.1:n.1816A>T | |
| NM_004333.4:c.1781A>T , LRG_299t1:c.1781A>T | NP_004324.2:p.Asp594Val | |
| XM_005250045.1:c.1781A>T | XP_005250102.1:p.Asp594Val | |
| XM_005250046.1:c.1781A>T | XP_005250103.1:p.Asp594Val | |
| XM_011516529.1:c.1781A>T | XP_011514831.1:p.Asp594Val | |
| XM_011516530.1:c.1695-3936A>T | XP_011514832.1:n.1695-3936A>T | |
| XR_242190.1:n.1789A>T | ||
| XR_927520.1:n.1789A>T | ||
| XR_927521.1:n.1789A>T | ||
| XR_927522.1:n.1703-3936A>T | ||
| XR_927523.1:n.1703-3936A>T | ||
| NM_001354609.1:c.1781A>T | NP_001341538.1:p.Asp594Val | |
| NM_004333.5:c.1781A>T | NP_004324.2:p.Asp594Val | |
| NR_148928.1:n.2879A>T | ||
| XM_017012558.1:c.1901A>T | XP_016868047.1:p.Asp634Val | |
| XM_017012559.1:c.1901A>T | XP_016868048.1:p.Asp634Val | |
| XR_001744857.1:n.1909A>T | ||
| XR_001744858.1:n.1823-3936A>T | ||
| NM_001354609.2:c.1781A>T | NP_001341538.1:p.Asp594Val | |
| NM_001374244.1:c.1901A>T | NP_001361173.1:p.Asp634Val | |
| NM_001374258.1:c.1901A>T MANE Plus Clinical | NP_001361187.1:p.Asp634Val | |
| NM_004333.6:c.1781A>T MANE Select | NP_004324.2:p.Asp594Val | |
| NM_001378467.1:c.1790A>T | NP_001365396.1:p.Asp597Val | |
| NM_001378468.1:c.1781A>T | NP_001365397.1:p.Asp594Val | |
| NM_001378469.1:c.1715A>T | NP_001365398.1:p.Asp572Val | |
| NM_001378470.1:c.1679A>T | NP_001365399.1:p.Asp560Val | |
| NM_001378471.1:c.1670A>T | NP_001365400.1:p.Asp557Val | |
| NM_001378472.1:c.1625A>T | NP_001365401.1:p.Asp542Val | |
| NM_001378473.1:c.1625A>T | NP_001365402.1:p.Asp542Val | |
| NM_001378474.1:c.1781A>T | NP_001365403.1:p.Asp594Val | |
| NM_001378475.1:c.1517A>T | NP_001365404.1:p.Asp506Val |