Linked Data
ClinVar Variation Id:
40366
ClinVar RCV Id:
RCV000033305
RCV000037917
RCV000797502
RCV001293860
RCV001813222
RCV003407389
RCV002251944
dbSNP Id:
rs397507473
ExAC:
7:140481405 A / G
gnomAD v2:
7-140481405-A-G
COSMIC:
COSM28611
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781605A>G , CM000669.2:g.140781605A>G | GRCh38 |
| NC_000007.13:g.140481405A>G , CM000669.1:g.140481405A>G | GRCh37 |
| NC_000007.12:g.140127874A>G | NCBI36 |
| NG_007873.3:g.148160T>C , LRG_299:g.148160T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1403T>C MANE Select | ENSP00000493543.1:p.Phe468Ser | |
| ENST00000288602.11:c.1523T>C | ENSP00000288602.7:p.Phe508Ser | |
| ENST00000479537.6:c.73T>C | ||
| ENST00000496384.7:c.1403T>C | ENSP00000419060.2:p.Phe468Ser | |
| ENST00000497784.2:c.*853T>C | ENSP00000420119.2:n.*853T>C | |
| ENST00000642228.1:c.*481T>C | ENSP00000493678.1:n.*481T>C | |
| ENST00000642875.1:n.845T>C | ||
| ENST00000644120.1:n.1793T>C | ||
| ENST00000644650.1:c.499T>C | ||
| ENST00000644905.1:n.1492T>C | ||
| ENST00000644969.2:c.1523T>C MANE Plus Clinical | ENSP00000496776.1:p.Phe508Ser | |
| ENST00000646334.1:n.533T>C | ||
| ENST00000646730.1:c.1403T>C | ENSP00000494784.1:p.Phe468Ser | |
| ENST00000646891.1:c.1403T>C | ENSP00000493543.1:p.Phe468Ser | |
| ENST00000647434.1:c.446T>C | ENSP00000495132.1:p.Phe149Ser | |
| ENST00000288602.10:c.1403T>C | ENSP00000288602.6:p.Phe468Ser | |
| ENST00000496384.6:c.226T>C | ||
| ENST00000497784.1:c.1438T>C | ENSP00000420119.1:n.1438T>C | |
| NM_004333.4:c.1403T>C , LRG_299t1:c.1403T>C | NP_004324.2:p.Phe468Ser | |
| XM_005250045.1:c.1403T>C | XP_005250102.1:p.Phe468Ser | |
| XM_005250046.1:c.1403T>C | XP_005250103.1:p.Phe468Ser | |
| XM_011516529.1:c.1403T>C | XP_011514831.1:p.Phe468Ser | |
| XM_011516530.1:c.1403T>C | XP_011514832.1:p.Phe468Ser | |
| XR_242190.1:n.1411T>C | ||
| XR_927520.1:n.1411T>C | ||
| XR_927521.1:n.1411T>C | ||
| XR_927522.1:n.1411T>C | ||
| XR_927523.1:n.1411T>C | ||
| NM_001354609.1:c.1403T>C | NP_001341538.1:p.Phe468Ser | |
| NM_004333.5:c.1403T>C | NP_004324.2:p.Phe468Ser | |
| NR_148928.1:n.1708T>C | ||
| XM_017012558.1:c.1523T>C | XP_016868047.1:p.Phe508Ser | |
| XM_017012559.1:c.1523T>C | XP_016868048.1:p.Phe508Ser | |
| XR_001744857.1:n.1531T>C | ||
| XR_001744858.1:n.1531T>C | ||
| NM_001354609.2:c.1403T>C | NP_001341538.1:p.Phe468Ser | |
| NM_001374244.1:c.1523T>C | NP_001361173.1:p.Phe508Ser | |
| NM_001374258.1:c.1523T>C MANE Plus Clinical | NP_001361187.1:p.Phe508Ser | |
| NM_004333.6:c.1403T>C MANE Select | NP_004324.2:p.Phe468Ser | |
| NM_001378467.1:c.1412T>C | NP_001365396.1:p.Phe471Ser | |
| NM_001378468.1:c.1403T>C | NP_001365397.1:p.Phe468Ser | |
| NM_001378469.1:c.1337T>C | NP_001365398.1:p.Phe446Ser | |
| NM_001378470.1:c.1301T>C | NP_001365399.1:p.Phe434Ser | |
| NM_001378471.1:c.1292T>C | NP_001365400.1:p.Phe431Ser | |
| NM_001378472.1:c.1247T>C | NP_001365401.1:p.Phe416Ser | |
| NM_001378473.1:c.1247T>C | NP_001365402.1:p.Phe416Ser | |
| NM_001378474.1:c.1403T>C | NP_001365403.1:p.Phe468Ser | |
| NM_001378475.1:c.1139T>C | NP_001365404.1:p.Phe380Ser |