Linked Data
ClinVar Variation Id:
13967
ClinVar RCV Id:
RCV000015001
RCV000037916
RCV000421693
RCV000424032
RCV000429151
RCV000436576
RCV000438953
RCV000438708
dbSNP Id:
rs121913351
gnomAD v2:
7-140481411-C-A
gnomAD v4:
7-140781611-C-A
COSMIC:
COSM451
PubMed:
PMID:12068308
PMID:12460918
PMID:12460919
PMID:12960123
PMID:18186519
PMID:19010912
PMID:19238210
PMID:19537845
PMID:20350999
PMID:21129611
PMID:21483012
PMID:22310681
PMID:22649091
PMID:23833300
PMID:25157968
PMID:26619011
CIViC:
CA123647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781611C>A , CM000669.2:g.140781611C>A | GRCh38 |
| NC_000007.13:g.140481411C>A , CM000669.1:g.140481411C>A | GRCh37 |
| NC_000007.12:g.140127880C>A | NCBI36 |
| NG_007873.3:g.148154G>T , LRG_299:g.148154G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1397G>T MANE Select | ENSP00000493543.1:p.Gly466Val | |
| ENST00000288602.11:c.1517G>T | ENSP00000288602.7:p.Gly506Val | |
| ENST00000479537.6:c.67G>T | ||
| ENST00000496384.7:c.1397G>T | ENSP00000419060.2:p.Gly466Val | |
| ENST00000497784.2:c.*847G>T | ENSP00000420119.2:n.*847G>T | |
| ENST00000642228.1:c.*475G>T | ENSP00000493678.1:n.*475G>T | |
| ENST00000642875.1:n.839G>T | ||
| ENST00000644120.1:n.1787G>T | ||
| ENST00000644650.1:c.493G>T | ||
| ENST00000644905.1:n.1486G>T | ||
| ENST00000644969.2:c.1517G>T MANE Plus Clinical | ENSP00000496776.1:p.Gly506Val | |
| ENST00000646334.1:n.527G>T | ||
| ENST00000646730.1:c.1397G>T | ENSP00000494784.1:p.Gly466Val | |
| ENST00000646891.1:c.1397G>T | ENSP00000493543.1:p.Gly466Val | |
| ENST00000647434.1:c.440G>T | ENSP00000495132.1:p.Gly147Val | |
| ENST00000288602.10:c.1397G>T | ENSP00000288602.6:p.Gly466Val | |
| ENST00000496384.6:c.220G>T | ||
| ENST00000497784.1:c.1432G>T | ENSP00000420119.1:n.1432G>T | |
| NM_004333.4:c.1397G>T , LRG_299t1:c.1397G>T | NP_004324.2:p.Gly466Val | |
| XM_005250045.1:c.1397G>T | XP_005250102.1:p.Gly466Val | |
| XM_005250046.1:c.1397G>T | XP_005250103.1:p.Gly466Val | |
| XM_011516529.1:c.1397G>T | XP_011514831.1:p.Gly466Val | |
| XM_011516530.1:c.1397G>T | XP_011514832.1:p.Gly466Val | |
| XR_242190.1:n.1405G>T | ||
| XR_927520.1:n.1405G>T | ||
| XR_927521.1:n.1405G>T | ||
| XR_927522.1:n.1405G>T | ||
| XR_927523.1:n.1405G>T | ||
| NM_001354609.1:c.1397G>T | NP_001341538.1:p.Gly466Val | |
| NM_004333.5:c.1397G>T | NP_004324.2:p.Gly466Val | |
| NR_148928.1:n.1702G>T | ||
| XM_017012558.1:c.1517G>T | XP_016868047.1:p.Gly506Val | |
| XM_017012559.1:c.1517G>T | XP_016868048.1:p.Gly506Val | |
| XR_001744857.1:n.1525G>T | ||
| XR_001744858.1:n.1525G>T | ||
| NM_001354609.2:c.1397G>T | NP_001341538.1:p.Gly466Val | |
| NM_001374244.1:c.1517G>T | NP_001361173.1:p.Gly506Val | |
| NM_001374258.1:c.1517G>T MANE Plus Clinical | NP_001361187.1:p.Gly506Val | |
| NM_004333.6:c.1397G>T MANE Select | NP_004324.2:p.Gly466Val | |
| NM_001378467.1:c.1406G>T | NP_001365396.1:p.Gly469Val | |
| NM_001378468.1:c.1397G>T | NP_001365397.1:p.Gly466Val | |
| NM_001378469.1:c.1331G>T | NP_001365398.1:p.Gly444Val | |
| NM_001378470.1:c.1295G>T | NP_001365399.1:p.Gly432Val | |
| NM_001378471.1:c.1286G>T | NP_001365400.1:p.Gly429Val | |
| NM_001378472.1:c.1241G>T | NP_001365401.1:p.Gly414Val | |
| NM_001378473.1:c.1241G>T | NP_001365402.1:p.Gly414Val | |
| NM_001378474.1:c.1397G>T | NP_001365403.1:p.Gly466Val | |
| NM_001378475.1:c.1133G>T | NP_001365404.1:p.Gly378Val |