Linked Data
ClinVar Variation Id:
207569
dbSNP Id:
rs756564767
ExAC:
11:6638858 G / A
gnomAD v2:
11-6638858-G-A
gnomAD v3:
11-6617627-G-A
gnomAD v4:
11-6617627-G-A
COSMIC:
COSM5713824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617627G>A , CM000673.2:g.6617627G>A | GRCh38 |
| NC_000011.9:g.6638858G>A , CM000673.1:g.6638858G>A | GRCh37 |
| NC_000011.8:g.6595434G>A | NCBI36 |
| NG_008653.1:g.6835C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.265C>T | ENSP00000507321.1:p.Arg89Ter | |
| ENST00000299427.12:c.379C>T MANE Select | ENSP00000299427.6:p.Arg127Ter | |
| ENST00000428886.7:n.467C>T | ||
| ENST00000436873.7:c.183C>T | ||
| ENST00000524788.2:n.1391C>T | ||
| ENST00000524903.2:n.1507C>T | ||
| ENST00000528571.6:c.*119C>T | ENSP00000434647.1:n.*119C>T | |
| ENST00000530040.2:n.408C>T | ||
| ENST00000533371.6:c.-351C>T | ENSP00000437066.1:n.-351C>T | |
| ENST00000534644.6:n.380C>T | ||
| ENST00000642892.1:c.-298C>T | ENSP00000494165.1:n.-298C>T | |
| ENST00000643439.1:c.*119C>T | ENSP00000495849.1:n.*119C>T | |
| ENST00000643479.1:n.408C>T | ||
| ENST00000643516.1:c.266C>T | ||
| ENST00000644151.1:n.1671C>T | ||
| ENST00000644218.1:c.379C>T | ENSP00000493574.1:p.Arg127Ter | |
| ENST00000644683.1:c.379C>T | ENSP00000494085.1:p.Arg127Ter | |
| ENST00000644810.1:c.230-474C>T | ENSP00000495895.1:n.230-474C>T | |
| ENST00000644831.1:n.408C>T | ||
| ENST00000644933.1:c.-351C>T | ENSP00000496133.1:n.-351C>T | |
| ENST00000645020.1:n.1407C>T | ||
| ENST00000645285.1:c.-351C>T | ENSP00000495058.1:n.-351C>T | |
| ENST00000645331.1:n.401C>T | ||
| ENST00000645620.1:c.-293C>T | ENSP00000493657.1:n.-293C>T | |
| ENST00000646777.1:n.408C>T | ||
| ENST00000647016.1:n.712C>T | ||
| ENST00000647152.1:c.-351C>T | ENSP00000495893.1:n.-351C>T | |
| ENST00000647209.1:c.*248C>T | ENSP00000495558.1:n.*248C>T | |
| ENST00000647346.1:n.1399C>T | ||
| ENST00000299427.10:c.379C>T | ENSP00000299427.6:p.Arg127Ter | |
| ENST00000428886.6:n.401C>T | ||
| ENST00000436873.6:c.379C>T | ENSP00000398136.2:p.Arg127Ter | |
| ENST00000528571.5:c.*119C>T | ENSP00000434647.1:n.*119C>T | |
| ENST00000530040.1:n.491C>T | ||
| ENST00000533371.5:c.-351C>T | ENSP00000437066.1:n.-351C>T | |
| ENST00000534644.5:n.364C>T | ||
| ENST00000611494.4:c.379C>T | ENSP00000484546.1:p.Arg127Ter | |
| NM_000391.3:c.379C>T | NP_000382.3:p.Arg127Ter | |
| NM_000391.4:c.379C>T MANE Select | NP_000382.3:p.Arg127Ter |