Linked Data
ClinVar Variation Id:
1086044
dbSNP Id:
rs121913371
ExAC:
7:140481478 G / T
gnomAD v2:
7-140481478-G-T
gnomAD v4:
7-140781678-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140781678G>T , CM000669.2:g.140781678G>T | GRCh38 |
| NC_000007.13:g.140481478G>T , CM000669.1:g.140481478G>T | GRCh37 |
| NC_000007.12:g.140127947G>T | NCBI36 |
| NG_007873.3:g.148087C>A , LRG_299:g.148087C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646891.2:c.1330C>A MANE Select | ENSP00000493543.1:p.Arg444= | |
| ENST00000288602.11:c.1450C>A | ENSP00000288602.7:p.Arg484= | |
| ENST00000496384.7:c.1330C>A | ENSP00000419060.2:p.Arg444= | |
| ENST00000497784.2:c.*780C>A | ENSP00000420119.2:n.*780C>A | |
| ENST00000642228.1:c.*408C>A | ENSP00000493678.1:n.*408C>A | |
| ENST00000642875.1:n.772C>A | ||
| ENST00000644120.1:n.1720C>A | ||
| ENST00000644650.1:c.426C>A | ||
| ENST00000644905.1:n.1419C>A | ||
| ENST00000644969.2:c.1450C>A MANE Plus Clinical | ENSP00000496776.1:p.Arg484= | |
| ENST00000646334.1:n.460C>A | ||
| ENST00000646730.1:c.1330C>A | ENSP00000494784.1:p.Arg444= | |
| ENST00000646891.1:c.1330C>A | ENSP00000493543.1:p.Arg444= | |
| ENST00000647434.1:c.373C>A | ENSP00000495132.1:p.Arg125= | |
| ENST00000288602.10:c.1330C>A | ENSP00000288602.6:p.Arg444= | |
| ENST00000496384.6:c.153C>A | ||
| ENST00000497784.1:c.1365C>A | ENSP00000420119.1:n.1365C>A | |
| NM_004333.4:c.1330C>A , LRG_299t1:c.1330C>A | NP_004324.2:p.Arg444= | |
| XM_005250045.1:c.1330C>A | XP_005250102.1:p.Arg444= | |
| XM_005250046.1:c.1330C>A | XP_005250103.1:p.Arg444= | |
| XM_011516529.1:c.1330C>A | XP_011514831.1:p.Arg444= | |
| XM_011516530.1:c.1330C>A | XP_011514832.1:p.Arg444= | |
| XR_242190.1:n.1338C>A | ||
| XR_927520.1:n.1338C>A | ||
| XR_927521.1:n.1338C>A | ||
| XR_927522.1:n.1338C>A | ||
| XR_927523.1:n.1338C>A | ||
| NM_001354609.1:c.1330C>A | NP_001341538.1:p.Arg444= | |
| NM_004333.5:c.1330C>A | NP_004324.2:p.Arg444= | |
| NR_148928.1:n.1635C>A | ||
| XM_017012558.1:c.1450C>A | XP_016868047.1:p.Arg484= | |
| XM_017012559.1:c.1450C>A | XP_016868048.1:p.Arg484= | |
| XR_001744857.1:n.1458C>A | ||
| XR_001744858.1:n.1458C>A | ||
| NM_001354609.2:c.1330C>A | NP_001341538.1:p.Arg444= | |
| NM_001374244.1:c.1450C>A | NP_001361173.1:p.Arg484= | |
| NM_001374258.1:c.1450C>A MANE Plus Clinical | NP_001361187.1:p.Arg484= | |
| NM_004333.6:c.1330C>A MANE Select | NP_004324.2:p.Arg444= | |
| NM_001378467.1:c.1339C>A | NP_001365396.1:p.Arg447= | |
| NM_001378468.1:c.1330C>A | NP_001365397.1:p.Arg444= | |
| NM_001378469.1:c.1264C>A | NP_001365398.1:p.Arg422= | |
| NM_001378470.1:c.1228C>A | NP_001365399.1:p.Arg410= | |
| NM_001378471.1:c.1219C>A | NP_001365400.1:p.Arg407= | |
| NM_001378472.1:c.1174C>A | NP_001365401.1:p.Arg392= | |
| NM_001378473.1:c.1174C>A | NP_001365402.1:p.Arg392= | |
| NM_001378474.1:c.1330C>A | NP_001365403.1:p.Arg444= | |
| NM_001378475.1:c.1066C>A | NP_001365404.1:p.Arg356= |