Linked Data
ClinVar Variation Id:
2098764
ClinVar RCV Id:
RCV003019278
MyVariant Identifiers:
chr11:g.6638614C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617383C>T , CM000673.2:g.6617383C>T | GRCh38 |
| NC_000011.9:g.6638614C>T , CM000673.1:g.6638614C>T | GRCh37 |
| NC_000011.8:g.6595190C>T | NCBI36 |
| NG_008653.1:g.7079G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.312G>A | ENSP00000507321.1:p.Val104= | |
| ENST00000299427.12:c.426G>A MANE Select | ENSP00000299427.6:p.Val142= | |
| ENST00000428886.7:n.514G>A | ||
| ENST00000436873.7:c.230G>A | ||
| ENST00000524788.2:n.1438G>A | ||
| ENST00000524903.2:n.1554G>A | ||
| ENST00000528571.6:c.*166G>A | ENSP00000434647.1:n.*166G>A | |
| ENST00000528807.2:n.82G>A | ||
| ENST00000530040.2:n.455G>A | ||
| ENST00000533371.6:c.-304G>A | ENSP00000437066.1:n.-304G>A | |
| ENST00000534644.6:n.427G>A | ||
| ENST00000642892.1:c.-251G>A | ENSP00000494165.1:n.-251G>A | |
| ENST00000643439.1:c.*166G>A | ENSP00000495849.1:n.*166G>A | |
| ENST00000643479.1:n.455G>A | ||
| ENST00000643516.1:c.313G>A | ||
| ENST00000644151.1:n.1718G>A | ||
| ENST00000644218.1:c.426G>A | ENSP00000493574.1:p.Val142= | |
| ENST00000644683.1:c.426G>A | ENSP00000494085.1:p.Val142= | |
| ENST00000644810.1:c.230-230G>A | ENSP00000495895.1:n.230-230G>A | |
| ENST00000644831.1:n.455G>A | ||
| ENST00000644933.1:c.-304G>A | ENSP00000496133.1:n.-304G>A | |
| ENST00000645020.1:n.1454G>A | ||
| ENST00000645285.1:c.-304G>A | ENSP00000495058.1:n.-304G>A | |
| ENST00000645331.1:n.645G>A | ||
| ENST00000645620.1:c.-246G>A | ENSP00000493657.1:n.-246G>A | |
| ENST00000646777.1:n.455G>A | ||
| ENST00000647016.1:n.759G>A | ||
| ENST00000647152.1:c.-304G>A | ENSP00000495893.1:n.-304G>A | |
| ENST00000647209.1:c.*295G>A | ENSP00000495558.1:n.*295G>A | |
| ENST00000647346.1:n.1446G>A | ||
| ENST00000299427.10:c.426G>A | ENSP00000299427.6:p.Val142= | |
| ENST00000428886.6:n.448G>A | ||
| ENST00000436873.6:c.426G>A | ENSP00000398136.2:p.Val142= | |
| ENST00000528571.5:c.*166G>A | ENSP00000434647.1:n.*166G>A | |
| ENST00000530040.1:n.538G>A | ||
| ENST00000533371.5:c.-304G>A | ENSP00000437066.1:n.-304G>A | |
| ENST00000534644.5:n.411G>A | ||
| ENST00000611494.4:c.426G>A | ENSP00000484546.1:p.Val142= | |
| NM_000391.3:c.426G>A | NP_000382.3:p.Val142= | |
| NM_000391.4:c.426G>A MANE Select | NP_000382.3:p.Val142= |