Linked Data
ClinVar Variation Id:
13970
ClinVar RCV Id:
RCV000015004
RCV000033306
RCV000421772
RCV000422506
RCV000423124
RCV000428425
RCV000428973
RCV000433203
RCV000439076
RCV000439657
RCV000441999
RCV001778653
dbSNP Id:
rs121913357
gnomAD v4:
7-140781603-C-G
COSMIC:
COSM455
CIViC:
CA123653
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781603C>G , CM000669.2:g.140781603C>G | GRCh38 |
| NC_000007.13:g.140481403C>G , CM000669.1:g.140481403C>G | GRCh37 |
| NC_000007.12:g.140127872C>G | NCBI36 |
| NG_007873.3:g.148162G>C , LRG_299:g.148162G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1405G>C MANE Select | ENSP00000493543.1:p.Gly469Arg | |
| ENST00000288602.11:c.1525G>C | ENSP00000288602.7:p.Gly509Arg | |
| ENST00000479537.6:c.75G>C | ||
| ENST00000496384.7:c.1405G>C | ENSP00000419060.2:p.Gly469Arg | |
| ENST00000497784.2:c.*855G>C | ENSP00000420119.2:n.*855G>C | |
| ENST00000642228.1:c.*483G>C | ENSP00000493678.1:n.*483G>C | |
| ENST00000642875.1:n.847G>C | ||
| ENST00000644120.1:n.1795G>C | ||
| ENST00000644650.1:c.501G>C | ||
| ENST00000644905.1:n.1494G>C | ||
| ENST00000644969.2:c.1525G>C MANE Plus Clinical | ENSP00000496776.1:p.Gly509Arg | |
| ENST00000646334.1:n.535G>C | ||
| ENST00000646730.1:c.1405G>C | ENSP00000494784.1:p.Gly469Arg | |
| ENST00000646891.1:c.1405G>C | ENSP00000493543.1:p.Gly469Arg | |
| ENST00000647434.1:c.448G>C | ENSP00000495132.1:p.Gly150Arg | |
| ENST00000288602.10:c.1405G>C | ENSP00000288602.6:p.Gly469Arg | |
| ENST00000496384.6:c.228G>C | ||
| ENST00000497784.1:c.1440G>C | ENSP00000420119.1:n.1440G>C | |
| NM_004333.4:c.1405G>C , LRG_299t1:c.1405G>C | NP_004324.2:p.Gly469Arg | |
| XM_005250045.1:c.1405G>C | XP_005250102.1:p.Gly469Arg | |
| XM_005250046.1:c.1405G>C | XP_005250103.1:p.Gly469Arg | |
| XM_011516529.1:c.1405G>C | XP_011514831.1:p.Gly469Arg | |
| XM_011516530.1:c.1405G>C | XP_011514832.1:p.Gly469Arg | |
| XR_242190.1:n.1413G>C | ||
| XR_927520.1:n.1413G>C | ||
| XR_927521.1:n.1413G>C | ||
| XR_927522.1:n.1413G>C | ||
| XR_927523.1:n.1413G>C | ||
| NM_001354609.1:c.1405G>C | NP_001341538.1:p.Gly469Arg | |
| NM_004333.5:c.1405G>C | NP_004324.2:p.Gly469Arg | |
| NR_148928.1:n.1710G>C | ||
| XM_017012558.1:c.1525G>C | XP_016868047.1:p.Gly509Arg | |
| XM_017012559.1:c.1525G>C | XP_016868048.1:p.Gly509Arg | |
| XR_001744857.1:n.1533G>C | ||
| XR_001744858.1:n.1533G>C | ||
| NM_001354609.2:c.1405G>C | NP_001341538.1:p.Gly469Arg | |
| NM_001374244.1:c.1525G>C | NP_001361173.1:p.Gly509Arg | |
| NM_001374258.1:c.1525G>C MANE Plus Clinical | NP_001361187.1:p.Gly509Arg | |
| NM_004333.6:c.1405G>C MANE Select | NP_004324.2:p.Gly469Arg | |
| NM_001378467.1:c.1414G>C | NP_001365396.1:p.Gly472Arg | |
| NM_001378468.1:c.1405G>C | NP_001365397.1:p.Gly469Arg | |
| NM_001378469.1:c.1339G>C | NP_001365398.1:p.Gly447Arg | |
| NM_001378470.1:c.1303G>C | NP_001365399.1:p.Gly435Arg | |
| NM_001378471.1:c.1294G>C | NP_001365400.1:p.Gly432Arg | |
| NM_001378472.1:c.1249G>C | NP_001365401.1:p.Gly417Arg | |
| NM_001378473.1:c.1249G>C | NP_001365402.1:p.Gly417Arg | |
| NM_001378474.1:c.1405G>C | NP_001365403.1:p.Gly469Arg | |
| NM_001378475.1:c.1141G>C | NP_001365404.1:p.Gly381Arg |