Linked Data
ClinVar Variation Id:
191845
ClinVar RCV Id:
RCV000172186
RCV000286462
RCV000389961
RCV000308968
RCV000365968
RCV000399987
RCV000469609
RCV002307433
RCV004535171
dbSNP Id:
rs762265902
ExAC:
2:179410643 T / C
gnomAD v2:
2-179410643-T-C
gnomAD v3:
2-178545916-T-C
gnomAD v4:
2-178545916-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545916T>C , CM000664.2:g.178545916T>C | GRCh38 |
| NC_000002.11:g.179410643T>C , CM000664.1:g.179410643T>C | GRCh37 |
| NC_000002.10:g.179118889T>C | NCBI36 |
| NG_011618.3:g.289887A>G , LRG_391:g.289887A>G | |
| NG_051363.1:g.28090T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87616A>G (TTN) | ENSP00000343764.6:p.Lys29206Glu | |
| ENST00000342175.11:c.68701A>G (TTN) | ENSP00000340554.6:p.Lys22901Glu | |
| ENST00000359218.10:c.68500A>G (TTN) | ENSP00000352154.5:p.Lys22834Glu | |
| ENST00000342175.10:c.68701A>G (TTN) | ENSP00000340554.6:p.Lys22901Glu | |
| ENST00000342992.10:c.87616A>G (TTN) | ENSP00000343764.6:p.Lys29206Glu | |
| ENST00000359218.9:c.68500A>G (TTN) | ENSP00000352154.5:p.Lys22834Glu | |
| ENST00000460472.6:c.68125A>G (TTN) | ENSP00000434586.1:p.Lys22709Glu | |
| ENST00000589042.5:c.95320A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys31774Glu | |
| ENST00000591111.5:c.90397A>G (TTN) | ENSP00000465570.1:p.Lys30133Glu | |
| ENST00000615779.4:c.90397A>G (TTN) | ENSP00000483597.1:p.Lys30133Glu | |
| NM_001256850.1:c.90397A>G (TTN) | NP_001243779.1:p.Lys30133Glu | |
| NM_001267550.2:c.95320A>G (TTN) MANE Select | NP_001254479.2:p.Lys31774Glu | |
| NM_003319.4:c.68125A>G (TTN) | NP_003310.4:p.Lys22709Glu | |
| NM_133378.4:c.87616A>G (TTN) | NP_596869.4:p.Lys29206Glu | |
| NM_133432.3:c.68500A>G (TTN) | NP_597676.3:p.Lys22834Glu | |
| NM_133437.4:c.68701A>G (TTN) | NP_597681.4:p.Lys22901Glu | |
| NR_038271.1:n.446+22280T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+3555T>C (TTN-AS1) | ||
| XM_011511729.1:c.94417A>G (TTN) | XP_011510031.1:p.Lys31473Glu | |
| XM_011511730.1:c.68311A>G (TTN) | XP_011510032.1:p.Lys22771Glu | |
| XM_011511731.1:c.68170A>G (TTN) | XP_011510033.1:p.Lys22724Glu | |
| XM_017004819.1:c.94213A>G (TTN) | XP_016860308.1:p.Lys31405Glu | |
| XM_017004820.1:c.89611A>G (TTN) | XP_016860309.1:p.Lys29871Glu | |
| XM_017004821.1:c.89608A>G (TTN) | XP_016860310.1:p.Lys29870Glu | |
| XM_017004822.1:c.86650A>G (TTN) | XP_016860311.1:p.Lys28884Glu | |
| XM_017004823.1:c.68266A>G (TTN) | XP_016860312.1:p.Lys22756Glu | |
| XM_024453094.1:c.89761A>G (TTN) | XP_024308862.1:p.Lys29921Glu | |
| XM_024453095.1:c.89758A>G (TTN) | XP_024308863.1:p.Lys29920Glu | |
| XM_024453096.1:c.89191A>G (TTN) | XP_024308864.1:p.Lys29731Glu | |
| XM_024453097.1:c.86533A>G (TTN) | XP_024308865.1:p.Lys28845Glu | |
| XM_024453098.1:c.86452A>G (TTN) | XP_024308866.1:p.Lys28818Glu | |
| XM_024453099.1:c.68215A>G (TTN) | XP_024308867.1:p.Lys22739Glu | |
| XM_024453100.1:c.58069A>G (TTN) | XP_024308868.1:p.Lys19357Glu |