Linked Data
ClinVar Variation Id:
1080061
ClinVar RCV Id:
RCV001395565
dbSNP Id:
rs778429963
MyVariant Identifiers:
chr11:g.6638859G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617628G>T , CM000673.2:g.6617628G>T | GRCh38 |
| NC_000011.9:g.6638859G>T , CM000673.1:g.6638859G>T | GRCh37 |
| NC_000011.8:g.6595435G>T | NCBI36 |
| NG_008653.1:g.6834C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.264C>A | ENSP00000507321.1:p.Ile88= | |
| ENST00000299427.12:c.378C>A MANE Select | ENSP00000299427.6:p.Ile126= | |
| ENST00000428886.7:n.466C>A | ||
| ENST00000436873.7:c.182C>A | ||
| ENST00000524788.2:n.1390C>A | ||
| ENST00000524903.2:n.1506C>A | ||
| ENST00000528571.6:c.*118C>A | ENSP00000434647.1:n.*118C>A | |
| ENST00000530040.2:n.407C>A | ||
| ENST00000533371.6:c.-352C>A | ENSP00000437066.1:n.-352C>A | |
| ENST00000534644.6:n.379C>A | ||
| ENST00000642892.1:c.-299C>A | ENSP00000494165.1:n.-299C>A | |
| ENST00000643439.1:c.*118C>A | ENSP00000495849.1:n.*118C>A | |
| ENST00000643479.1:n.407C>A | ||
| ENST00000643516.1:c.265C>A | ||
| ENST00000644151.1:n.1670C>A | ||
| ENST00000644218.1:c.378C>A | ENSP00000493574.1:p.Ile126= | |
| ENST00000644683.1:c.378C>A | ENSP00000494085.1:p.Ile126= | |
| ENST00000644810.1:c.230-475C>A | ENSP00000495895.1:n.230-475C>A | |
| ENST00000644831.1:n.407C>A | ||
| ENST00000644933.1:c.-352C>A | ENSP00000496133.1:n.-352C>A | |
| ENST00000645020.1:n.1406C>A | ||
| ENST00000645285.1:c.-352C>A | ENSP00000495058.1:n.-352C>A | |
| ENST00000645331.1:n.400C>A | ||
| ENST00000645620.1:c.-294C>A | ENSP00000493657.1:n.-294C>A | |
| ENST00000646777.1:n.407C>A | ||
| ENST00000647016.1:n.711C>A | ||
| ENST00000647152.1:c.-352C>A | ENSP00000495893.1:n.-352C>A | |
| ENST00000647209.1:c.*247C>A | ENSP00000495558.1:n.*247C>A | |
| ENST00000647346.1:n.1398C>A | ||
| ENST00000299427.10:c.378C>A | ENSP00000299427.6:p.Ile126= | |
| ENST00000428886.6:n.400C>A | ||
| ENST00000436873.6:c.378C>A | ENSP00000398136.2:p.Ile126= | |
| ENST00000528571.5:c.*118C>A | ENSP00000434647.1:n.*118C>A | |
| ENST00000530040.1:n.490C>A | ||
| ENST00000533371.5:c.-352C>A | ENSP00000437066.1:n.-352C>A | |
| ENST00000534644.5:n.363C>A | ||
| ENST00000611494.4:c.378C>A | ENSP00000484546.1:p.Ile126= | |
| NM_000391.3:c.378C>A | NP_000382.3:p.Ile126= | |
| NM_000391.4:c.378C>A MANE Select | NP_000382.3:p.Ile126= |