Linked Data
ClinVar Variation Id:
2834710
ClinVar RCV Id:
RCV003648381
MyVariant Identifiers:
chr11:g.1774808G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753578G>A , CM000673.2:g.1753578G>A | GRCh38 |
| NC_000011.9:g.1774808G>A , CM000673.1:g.1774808G>A | GRCh37 |
| NC_000011.8:g.1731384G>A | NCBI36 |
| NG_008655.1:g.15415C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1164C>T MANE Select | ENSP00000236671.2:p.Val388= | |
| ENST00000367196.4:c.1059C>T | ENSP00000356164.4:p.Val353= | |
| ENST00000427721.3:c.589C>T | ||
| ENST00000429746.2:c.1059C>T | ENSP00000402586.2:p.Val353= | |
| ENST00000433655.6:c.*330C>T | ENSP00000404902.1:n.*330C>T | |
| ENST00000438213.6:c.1281C>T | ENSP00000415036.2:p.Val427= | |
| ENST00000636397.1:c.1071+225C>T | ENSP00000489910.1:n.1071+225C>T | |
| ENST00000636571.1:c.1143C>T | ENSP00000490770.1:p.Val381= | |
| ENST00000636579.1:c.72+225C>T | ENSP00000490489.1:n.72+225C>T | |
| ENST00000636615.1:c.1071+225C>T | ENSP00000490014.1:n.1071+225C>T | |
| ENST00000636843.1:c.1158C>T | ENSP00000490897.1:p.Val386= | |
| ENST00000637158.1:n.762C>T | ||
| ENST00000637381.2:n.3592C>T | ||
| ENST00000637387.1:c.1143C>T | ENSP00000490598.1:p.Val381= | |
| ENST00000637815.2:c.1146C>T | ENSP00000490344.1:p.Val382= | |
| ENST00000637915.1:c.1155C>T | ENSP00000490471.1:p.Val385= | |
| ENST00000637937.1:n.472C>T | ||
| ENST00000678991.1:c.*1025C>T | ENSP00000503019.1:n.*1025C>T | |
| ENST00000236671.6:c.1164C>T | ENSP00000236671.2:p.Val388= | |
| ENST00000427721.2:c.471+225C>T | ENSP00000415840.2:n.471+225C>T | |
| ENST00000429746.1:c.495C>T | ENSP00000402586.1:p.Val165= | |
| ENST00000433655.5:c.*330C>T | ENSP00000404902.1:n.*330C>T | |
| NM_001909.4:c.1164C>T | NP_001900.1:p.Val388= | |
| NM_001909.5:c.1164C>T MANE Select | NP_001900.1:p.Val388= |