Linked Data
ClinVar Variation Id:
1134853
ClinVar RCV Id:
RCV001469937
dbSNP Id:
rs2134591585
gnomAD v4:
11-6615198-C-T
MyVariant Identifiers:
chr11:g.6636429C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615198C>T , CM000673.2:g.6615198C>T | GRCh38 |
| NC_000011.9:g.6636429C>T , CM000673.1:g.6636429C>T | GRCh37 |
| NC_000011.8:g.6593005C>T | NCBI36 |
| NG_008653.1:g.9264G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1284G>A | ENSP00000507321.1:p.Val428= | |
| ENST00000299427.12:c.1398G>A MANE Select | ENSP00000299427.6:p.Val466= | |
| ENST00000524611.2:n.258G>A | ||
| ENST00000524924.2:n.518G>A | ||
| ENST00000533371.6:c.669G>A | ENSP00000437066.1:p.Val223= | |
| ENST00000642892.1:c.669G>A | ENSP00000494165.1:p.Val223= | |
| ENST00000643342.1:c.471G>A | ||
| ENST00000643439.1:c.*1138G>A | ENSP00000495849.1:n.*1138G>A | |
| ENST00000643479.1:n.1584G>A | ||
| ENST00000643516.1:c.907G>A | ||
| ENST00000644218.1:c.1209G>A | ENSP00000493574.1:p.Val403= | |
| ENST00000644683.1:c.*851G>A | ENSP00000494085.1:n.*851G>A | |
| ENST00000644810.1:c.1119G>A | ENSP00000495895.1:p.Val373= | |
| ENST00000644831.1:n.1574G>A | ||
| ENST00000644933.1:c.*264G>A | ENSP00000496133.1:n.*264G>A | |
| ENST00000645285.1:c.*264G>A | ENSP00000495058.1:n.*264G>A | |
| ENST00000645331.1:n.2603G>A | ||
| ENST00000645620.1:c.669G>A | ENSP00000493657.1:p.Val223= | |
| ENST00000646691.1:n.1285G>A | ||
| ENST00000646777.1:n.1731G>A | ||
| ENST00000647016.1:n.1878G>A | ||
| ENST00000647152.1:c.669G>A | ENSP00000495893.1:p.Val223= | |
| ENST00000647209.1:c.*1267G>A | ENSP00000495558.1:n.*1267G>A | |
| ENST00000647346.1:n.2418G>A | ||
| ENST00000299427.10:c.1398G>A | ENSP00000299427.6:p.Val466= | |
| ENST00000524611.1:n.276G>A | ||
| ENST00000533371.5:c.669G>A | ENSP00000437066.1:p.Val223= | |
| ENST00000611494.4:c.1398G>A | ENSP00000484546.1:p.Val466= | |
| NM_000391.3:c.1398G>A | NP_000382.3:p.Val466= | |
| NM_000391.4:c.1398G>A MANE Select | NP_000382.3:p.Val466= |