Linked Data
ClinVar Variation Id:
13974
ClinVar RCV Id:
RCV000015008
RCV000033307
RCV000211748
RCV000212152
RCV000419555
RCV000419576
RCV000424773
RCV000427006
RCV000427215
RCV000434590
RCV000436804
RCV000437869
RCV000443381
RCV000506575
RCV001813209
RCV002287336
dbSNP Id:
rs121913355
ExAC:
7:140481402 C / T
gnomAD v2:
7-140481402-C-T
gnomAD v4:
7-140781602-C-T
COSMIC:
COSM461
CIViC:
CA279970
ERepo:
CA279970/MONDO:0015280/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781602C>T , CM000669.2:g.140781602C>T | GRCh38 |
| NC_000007.13:g.140481402C>T , CM000669.1:g.140481402C>T | GRCh37 |
| NC_000007.12:g.140127871C>T | NCBI36 |
| NG_007873.3:g.148163G>A , LRG_299:g.148163G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1406G>A MANE Select | ENSP00000493543.1:p.Gly469Glu | |
| ENST00000288602.11:c.1526G>A | ENSP00000288602.7:p.Gly509Glu | |
| ENST00000479537.6:c.76G>A | ||
| ENST00000496384.7:c.1406G>A | ENSP00000419060.2:p.Gly469Glu | |
| ENST00000497784.2:c.*856G>A | ENSP00000420119.2:n.*856G>A | |
| ENST00000642228.1:c.*484G>A | ENSP00000493678.1:n.*484G>A | |
| ENST00000642875.1:n.848G>A | ||
| ENST00000644120.1:n.1796G>A | ||
| ENST00000644650.1:c.502G>A | ||
| ENST00000644905.1:n.1495G>A | ||
| ENST00000644969.2:c.1526G>A MANE Plus Clinical | ENSP00000496776.1:p.Gly509Glu | |
| ENST00000646334.1:n.536G>A | ||
| ENST00000646730.1:c.1406G>A | ENSP00000494784.1:p.Gly469Glu | |
| ENST00000646891.1:c.1406G>A | ENSP00000493543.1:p.Gly469Glu | |
| ENST00000647434.1:c.449G>A | ENSP00000495132.1:p.Gly150Glu | |
| ENST00000288602.10:c.1406G>A | ENSP00000288602.6:p.Gly469Glu | |
| ENST00000496384.6:c.229G>A | ||
| ENST00000497784.1:c.1441G>A | ENSP00000420119.1:n.1441G>A | |
| NM_004333.4:c.1406G>A , LRG_299t1:c.1406G>A | NP_004324.2:p.Gly469Glu | |
| XM_005250045.1:c.1406G>A | XP_005250102.1:p.Gly469Glu | |
| XM_005250046.1:c.1406G>A | XP_005250103.1:p.Gly469Glu | |
| XM_011516529.1:c.1406G>A | XP_011514831.1:p.Gly469Glu | |
| XM_011516530.1:c.1406G>A | XP_011514832.1:p.Gly469Glu | |
| XR_242190.1:n.1414G>A | ||
| XR_927520.1:n.1414G>A | ||
| XR_927521.1:n.1414G>A | ||
| XR_927522.1:n.1414G>A | ||
| XR_927523.1:n.1414G>A | ||
| NM_001354609.1:c.1406G>A | NP_001341538.1:p.Gly469Glu | |
| NM_004333.5:c.1406G>A | NP_004324.2:p.Gly469Glu | |
| NR_148928.1:n.1711G>A | ||
| XM_017012558.1:c.1526G>A | XP_016868047.1:p.Gly509Glu | |
| XM_017012559.1:c.1526G>A | XP_016868048.1:p.Gly509Glu | |
| XR_001744857.1:n.1534G>A | ||
| XR_001744858.1:n.1534G>A | ||
| NM_001354609.2:c.1406G>A | NP_001341538.1:p.Gly469Glu | |
| NM_001374244.1:c.1526G>A | NP_001361173.1:p.Gly509Glu | |
| NM_001374258.1:c.1526G>A MANE Plus Clinical | NP_001361187.1:p.Gly509Glu | |
| NM_004333.6:c.1406G>A MANE Select | NP_004324.2:p.Gly469Glu | |
| NM_001378467.1:c.1415G>A | NP_001365396.1:p.Gly472Glu | |
| NM_001378468.1:c.1406G>A | NP_001365397.1:p.Gly469Glu | |
| NM_001378469.1:c.1340G>A | NP_001365398.1:p.Gly447Glu | |
| NM_001378470.1:c.1304G>A | NP_001365399.1:p.Gly435Glu | |
| NM_001378471.1:c.1295G>A | NP_001365400.1:p.Gly432Glu | |
| NM_001378472.1:c.1250G>A | NP_001365401.1:p.Gly417Glu | |
| NM_001378473.1:c.1250G>A | NP_001365402.1:p.Gly417Glu | |
| NM_001378474.1:c.1406G>A | NP_001365403.1:p.Gly469Glu | |
| NM_001378475.1:c.1142G>A | NP_001365404.1:p.Gly381Glu |