Linked Data
ClinVar Variation Id:
2758670
ClinVar RCV Id:
RCV003531864
MyVariant Identifiers:
chr11:g.1774796G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1753566G>T , CM000673.2:g.1753566G>T | GRCh38 |
| NC_000011.9:g.1774796G>T , CM000673.1:g.1774796G>T | GRCh37 |
| NC_000011.8:g.1731372G>T | NCBI36 |
| NG_008655.1:g.15427C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.1176C>A MANE Select | ENSP00000236671.2:p.Arg392= | |
| ENST00000367196.4:c.1071C>A | ENSP00000356164.4:p.Arg357= | |
| ENST00000427721.3:c.601C>A | ||
| ENST00000429746.2:c.1071C>A | ENSP00000402586.2:p.Arg357= | |
| ENST00000433655.6:c.*342C>A | ENSP00000404902.1:n.*342C>A | |
| ENST00000438213.6:c.1293C>A | ENSP00000415036.2:p.Arg431= | |
| ENST00000636397.1:c.1071+237C>A | ENSP00000489910.1:n.1071+237C>A | |
| ENST00000636571.1:c.1155C>A | ENSP00000490770.1:p.Arg385= | |
| ENST00000636579.1:c.72+237C>A | ENSP00000490489.1:n.72+237C>A | |
| ENST00000636615.1:c.1071+237C>A | ENSP00000490014.1:n.1071+237C>A | |
| ENST00000636843.1:c.1170C>A | ENSP00000490897.1:p.Arg390= | |
| ENST00000637158.1:n.774C>A | ||
| ENST00000637381.2:n.3604C>A | ||
| ENST00000637387.1:c.1155C>A | ENSP00000490598.1:p.Arg385= | |
| ENST00000637815.2:c.1158C>A | ENSP00000490344.1:p.Arg386= | |
| ENST00000637915.1:c.1167C>A | ENSP00000490471.1:p.Arg389= | |
| ENST00000637937.1:n.484C>A | ||
| ENST00000678991.1:c.*1037C>A | ENSP00000503019.1:n.*1037C>A | |
| ENST00000236671.6:c.1176C>A | ENSP00000236671.2:p.Arg392= | |
| ENST00000427721.2:c.471+237C>A | ENSP00000415840.2:n.471+237C>A | |
| ENST00000429746.1:c.507C>A | ENSP00000402586.1:p.Arg169= | |
| ENST00000433655.5:c.*342C>A | ENSP00000404902.1:n.*342C>A | |
| NM_001909.4:c.1176C>A | NP_001900.1:p.Arg392= | |
| NM_001909.5:c.1176C>A MANE Select | NP_001900.1:p.Arg392= |