Linked Data
ClinVar Variation Id:
448692
dbSNP Id:
rs369126677
ExAC:
11:6640433 C / T
gnomAD v2:
11-6640433-C-T
gnomAD v3:
11-6619202-C-T
gnomAD v4:
11-6619202-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6619202C>T , CM000673.2:g.6619202C>T | GRCh38 |
| NC_000011.9:g.6640433C>T , CM000673.1:g.6640433C>T | GRCh37 |
| NC_000011.8:g.6597009C>T | NCBI36 |
| NG_008653.1:g.5260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.22+204G>A | ENSP00000507321.1:n.22+204G>A | |
| ENST00000299427.12:c.83G>A MANE Select | ENSP00000299427.6:p.Arg28Gln | |
| ENST00000428886.7:n.171G>A | ||
| ENST00000524788.2:n.96G>A | ||
| ENST00000524903.2:n.212G>A | ||
| ENST00000528571.6:c.83G>A | ENSP00000434647.1:p.Arg28Gln | |
| ENST00000528657.2:c.83G>A | ENSP00000435001.1:p.Arg28Gln | |
| ENST00000530040.2:n.112G>A | ||
| ENST00000531754.2:c.83G>A | ENSP00000493706.1:p.Arg28Gln | |
| ENST00000533371.6:c.-647G>A | ENSP00000437066.1:n.-647G>A | |
| ENST00000534644.6:n.84G>A | ||
| ENST00000642892.1:c.-594G>A | ENSP00000494165.1:n.-594G>A | |
| ENST00000643439.1:c.83G>A | ENSP00000495849.1:p.Arg28Gln | |
| ENST00000643479.1:n.112G>A | ||
| ENST00000644151.1:n.96G>A | ||
| ENST00000644218.1:c.83G>A | ENSP00000493574.1:p.Arg28Gln | |
| ENST00000644683.1:c.83G>A | ENSP00000494085.1:p.Arg28Gln | |
| ENST00000644810.1:c.83G>A | ENSP00000495895.1:p.Arg28Gln | |
| ENST00000644831.1:n.112G>A | ||
| ENST00000644933.1:c.-647G>A | ENSP00000496133.1:n.-647G>A | |
| ENST00000645020.1:n.112G>A | ||
| ENST00000645285.1:c.-507G>A | ENSP00000495058.1:n.-507G>A | |
| ENST00000645331.1:n.105G>A | ||
| ENST00000645620.1:c.-589G>A | ENSP00000493657.1:n.-589G>A | |
| ENST00000646777.1:n.112G>A | ||
| ENST00000647152.1:c.-507G>A | ENSP00000495893.1:n.-507G>A | |
| ENST00000647209.1:c.75G>A | ENSP00000495558.1:p.Ala25= | |
| ENST00000647346.1:n.104G>A | ||
| ENST00000299427.10:c.83G>A | ENSP00000299427.6:p.Arg28Gln | |
| ENST00000428886.6:n.105G>A | ||
| ENST00000436873.6:c.83G>A | ENSP00000398136.2:p.Arg28Gln | |
| ENST00000524903.1:n.180G>A | ||
| ENST00000528571.5:c.83G>A | ENSP00000434647.1:p.Arg28Gln | |
| ENST00000528657.1:c.83G>A | ENSP00000435001.1:p.Arg28Gln | |
| ENST00000528917.1:n.104G>A | ||
| ENST00000530040.1:n.195G>A | ||
| ENST00000531754.1:n.131G>A | ||
| ENST00000533371.5:c.-647G>A | ENSP00000437066.1:n.-647G>A | |
| ENST00000534644.5:n.208G>A | ||
| ENST00000611494.4:c.83G>A | ENSP00000484546.1:p.Arg28Gln | |
| NM_000391.3:c.83G>A | NP_000382.3:p.Arg28Gln | |
| NM_000391.4:c.83G>A MANE Select | NP_000382.3:p.Arg28Gln |