Linked Data
ClinVar Variation Id:
13962
ClinVar RCV Id:
RCV000014995
dbSNP Id:
rs180177032
gnomAD v4:
7-140781623-C-A
COSMIC:
COSM447
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781623C>A , CM000669.2:g.140781623C>A | GRCh38 |
| NC_000007.13:g.140481423C>A , CM000669.1:g.140481423C>A | GRCh37 |
| NC_000007.12:g.140127892C>A | NCBI36 |
| NG_007873.3:g.148142G>T , LRG_299:g.148142G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1385G>T MANE Select | ENSP00000493543.1:p.Arg462Ile | |
| ENST00000288602.11:c.1505G>T | ENSP00000288602.7:p.Arg502Ile | |
| ENST00000479537.6:c.55G>T | ||
| ENST00000496384.7:c.1385G>T | ENSP00000419060.2:p.Arg462Ile | |
| ENST00000497784.2:c.*835G>T | ENSP00000420119.2:n.*835G>T | |
| ENST00000642228.1:c.*463G>T | ENSP00000493678.1:n.*463G>T | |
| ENST00000642875.1:n.827G>T | ||
| ENST00000644120.1:n.1775G>T | ||
| ENST00000644650.1:c.481G>T | ||
| ENST00000644905.1:n.1474G>T | ||
| ENST00000644969.2:c.1505G>T MANE Plus Clinical | ENSP00000496776.1:p.Arg502Ile | |
| ENST00000646334.1:n.515G>T | ||
| ENST00000646730.1:c.1385G>T | ENSP00000494784.1:p.Arg462Ile | |
| ENST00000646891.1:c.1385G>T | ENSP00000493543.1:p.Arg462Ile | |
| ENST00000647434.1:c.428G>T | ENSP00000495132.1:p.Arg143Ile | |
| ENST00000288602.10:c.1385G>T | ENSP00000288602.6:p.Arg462Ile | |
| ENST00000496384.6:c.208G>T | ||
| ENST00000497784.1:c.1420G>T | ENSP00000420119.1:n.1420G>T | |
| NM_004333.4:c.1385G>T , LRG_299t1:c.1385G>T | NP_004324.2:p.Arg462Ile | |
| XM_005250045.1:c.1385G>T | XP_005250102.1:p.Arg462Ile | |
| XM_005250046.1:c.1385G>T | XP_005250103.1:p.Arg462Ile | |
| XM_011516529.1:c.1385G>T | XP_011514831.1:p.Arg462Ile | |
| XM_011516530.1:c.1385G>T | XP_011514832.1:p.Arg462Ile | |
| XR_242190.1:n.1393G>T | ||
| XR_927520.1:n.1393G>T | ||
| XR_927521.1:n.1393G>T | ||
| XR_927522.1:n.1393G>T | ||
| XR_927523.1:n.1393G>T | ||
| NM_001354609.1:c.1385G>T | NP_001341538.1:p.Arg462Ile | |
| NM_004333.5:c.1385G>T | NP_004324.2:p.Arg462Ile | |
| NR_148928.1:n.1690G>T | ||
| XM_017012558.1:c.1505G>T | XP_016868047.1:p.Arg502Ile | |
| XM_017012559.1:c.1505G>T | XP_016868048.1:p.Arg502Ile | |
| XR_001744857.1:n.1513G>T | ||
| XR_001744858.1:n.1513G>T | ||
| NM_001354609.2:c.1385G>T | NP_001341538.1:p.Arg462Ile | |
| NM_001374244.1:c.1505G>T | NP_001361173.1:p.Arg502Ile | |
| NM_001374258.1:c.1505G>T MANE Plus Clinical | NP_001361187.1:p.Arg502Ile | |
| NM_004333.6:c.1385G>T MANE Select | NP_004324.2:p.Arg462Ile | |
| NM_001378467.1:c.1394G>T | NP_001365396.1:p.Arg465Ile | |
| NM_001378468.1:c.1385G>T | NP_001365397.1:p.Arg462Ile | |
| NM_001378469.1:c.1319G>T | NP_001365398.1:p.Arg440Ile | |
| NM_001378470.1:c.1283G>T | NP_001365399.1:p.Arg428Ile | |
| NM_001378471.1:c.1274G>T | NP_001365400.1:p.Arg425Ile | |
| NM_001378472.1:c.1229G>T | NP_001365401.1:p.Arg410Ile | |
| NM_001378473.1:c.1229G>T | NP_001365402.1:p.Arg410Ile | |
| NM_001378474.1:c.1385G>T | NP_001365403.1:p.Arg462Ile | |
| NM_001378475.1:c.1121G>T | NP_001365404.1:p.Arg374Ile |