Linked Data
ClinVar Variation Id:
13964
ClinVar RCV Id:
RCV000014997
RCV000033304
RCV000418719
RCV000207512
RCV000436895
RCV001261044
RCV000844618
dbSNP Id:
rs121913348
COSMIC:
COSM449
ERepo:
CA250636/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781617C>T , CM000669.2:g.140781617C>T | GRCh38 |
| NC_000007.13:g.140481417C>T , CM000669.1:g.140481417C>T | GRCh37 |
| NC_000007.12:g.140127886C>T | NCBI36 |
| NG_007873.3:g.148148G>A , LRG_299:g.148148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1391G>A MANE Select | ENSP00000493543.1:p.Gly464Glu | |
| ENST00000288602.11:c.1511G>A | ENSP00000288602.7:p.Gly504Glu | |
| ENST00000479537.6:c.61G>A | ||
| ENST00000496384.7:c.1391G>A | ENSP00000419060.2:p.Gly464Glu | |
| ENST00000497784.2:c.*841G>A | ENSP00000420119.2:n.*841G>A | |
| ENST00000642228.1:c.*469G>A | ENSP00000493678.1:n.*469G>A | |
| ENST00000642875.1:n.833G>A | ||
| ENST00000644120.1:n.1781G>A | ||
| ENST00000644650.1:c.487G>A | ||
| ENST00000644905.1:n.1480G>A | ||
| ENST00000644969.2:c.1511G>A MANE Plus Clinical | ENSP00000496776.1:p.Gly504Glu | |
| ENST00000646334.1:n.521G>A | ||
| ENST00000646730.1:c.1391G>A | ENSP00000494784.1:p.Gly464Glu | |
| ENST00000646891.1:c.1391G>A | ENSP00000493543.1:p.Gly464Glu | |
| ENST00000647434.1:c.434G>A | ENSP00000495132.1:p.Gly145Glu | |
| ENST00000288602.10:c.1391G>A | ENSP00000288602.6:p.Gly464Glu | |
| ENST00000496384.6:c.214G>A | ||
| ENST00000497784.1:c.1426G>A | ENSP00000420119.1:n.1426G>A | |
| NM_004333.4:c.1391G>A , LRG_299t1:c.1391G>A | NP_004324.2:p.Gly464Glu | |
| XM_005250045.1:c.1391G>A | XP_005250102.1:p.Gly464Glu | |
| XM_005250046.1:c.1391G>A | XP_005250103.1:p.Gly464Glu | |
| XM_011516529.1:c.1391G>A | XP_011514831.1:p.Gly464Glu | |
| XM_011516530.1:c.1391G>A | XP_011514832.1:p.Gly464Glu | |
| XR_242190.1:n.1399G>A | ||
| XR_927520.1:n.1399G>A | ||
| XR_927521.1:n.1399G>A | ||
| XR_927522.1:n.1399G>A | ||
| XR_927523.1:n.1399G>A | ||
| NM_001354609.1:c.1391G>A | NP_001341538.1:p.Gly464Glu | |
| NM_004333.5:c.1391G>A | NP_004324.2:p.Gly464Glu | |
| NR_148928.1:n.1696G>A | ||
| XM_017012558.1:c.1511G>A | XP_016868047.1:p.Gly504Glu | |
| XM_017012559.1:c.1511G>A | XP_016868048.1:p.Gly504Glu | |
| XR_001744857.1:n.1519G>A | ||
| XR_001744858.1:n.1519G>A | ||
| NM_001354609.2:c.1391G>A | NP_001341538.1:p.Gly464Glu | |
| NM_001374244.1:c.1511G>A | NP_001361173.1:p.Gly504Glu | |
| NM_001374258.1:c.1511G>A MANE Plus Clinical | NP_001361187.1:p.Gly504Glu | |
| NM_004333.6:c.1391G>A MANE Select | NP_004324.2:p.Gly464Glu | |
| NM_001378467.1:c.1400G>A | NP_001365396.1:p.Gly467Glu | |
| NM_001378468.1:c.1391G>A | NP_001365397.1:p.Gly464Glu | |
| NM_001378469.1:c.1325G>A | NP_001365398.1:p.Gly442Glu | |
| NM_001378470.1:c.1289G>A | NP_001365399.1:p.Gly430Glu | |
| NM_001378471.1:c.1280G>A | NP_001365400.1:p.Gly427Glu | |
| NM_001378472.1:c.1235G>A | NP_001365401.1:p.Gly412Glu | |
| NM_001378473.1:c.1235G>A | NP_001365402.1:p.Gly412Glu | |
| NM_001378474.1:c.1391G>A | NP_001365403.1:p.Gly464Glu | |
| NM_001378475.1:c.1127G>A | NP_001365404.1:p.Gly376Glu |