Linked Data
ClinVar Variation Id:
448830
dbSNP Id:
rs759484932
ExAC:
2:179414127 C / T
gnomAD v2:
2-179414127-C-T
gnomAD v4:
2-178549400-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549400C>T , CM000664.2:g.178549400C>T | GRCh38 |
| NC_000002.11:g.179414127C>T , CM000664.1:g.179414127C>T | GRCh37 |
| NC_000002.10:g.179122373C>T | NCBI36 |
| NG_011618.3:g.286403G>A , LRG_391:g.286403G>A | |
| NG_051363.1:g.31574C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84522G>A (TTN) | ENSP00000343764.6:p.Arg28174= | |
| ENST00000342175.11:c.65607G>A (TTN) | ENSP00000340554.6:p.Arg21869= | |
| ENST00000359218.10:c.65406G>A (TTN) | ENSP00000352154.5:p.Arg21802= | |
| ENST00000342175.10:c.65607G>A (TTN) | ENSP00000340554.6:p.Arg21869= | |
| ENST00000342992.10:c.84522G>A (TTN) | ENSP00000343764.6:p.Arg28174= | |
| ENST00000359218.9:c.65406G>A (TTN) | ENSP00000352154.5:p.Arg21802= | |
| ENST00000460472.6:c.65031G>A (TTN) | ENSP00000434586.1:p.Arg21677= | |
| ENST00000589042.5:c.92226G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg30742= | |
| ENST00000591111.5:c.87303G>A (TTN) | ENSP00000465570.1:p.Arg29101= | |
| ENST00000615779.4:c.87303G>A (TTN) | ENSP00000483597.1:p.Arg29101= | |
| NM_001256850.1:c.87303G>A (TTN) | NP_001243779.1:p.Arg29101= | |
| NM_001267550.2:c.92226G>A (TTN) MANE Select | NP_001254479.2:p.Arg30742= | |
| NM_003319.4:c.65031G>A (TTN) | NP_003310.4:p.Arg21677= | |
| NM_133378.4:c.84522G>A (TTN) | NP_596869.4:p.Arg28174= | |
| NM_133432.3:c.65406G>A (TTN) | NP_597676.3:p.Arg21802= | |
| NM_133437.4:c.65607G>A (TTN) | NP_597681.4:p.Arg21869= | |
| NR_038271.1:n.447-21900C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+7039C>T (TTN-AS1) | ||
| XM_011511729.1:c.91323G>A (TTN) | XP_011510031.1:p.Arg30441= | |
| XM_011511730.1:c.65217G>A (TTN) | XP_011510032.1:p.Arg21739= | |
| XM_011511731.1:c.65076G>A (TTN) | XP_011510033.1:p.Arg21692= | |
| XM_017004819.1:c.91119G>A (TTN) | XP_016860308.1:p.Arg30373= | |
| XM_017004820.1:c.86517G>A (TTN) | XP_016860309.1:p.Arg28839= | |
| XM_017004821.1:c.86514G>A (TTN) | XP_016860310.1:p.Arg28838= | |
| XM_017004822.1:c.83556G>A (TTN) | XP_016860311.1:p.Arg27852= | |
| XM_017004823.1:c.65172G>A (TTN) | XP_016860312.1:p.Arg21724= | |
| XM_024453094.1:c.86667G>A (TTN) | XP_024308862.1:p.Arg28889= | |
| XM_024453095.1:c.86664G>A (TTN) | XP_024308863.1:p.Arg28888= | |
| XM_024453096.1:c.86097G>A (TTN) | XP_024308864.1:p.Arg28699= | |
| XM_024453097.1:c.83439G>A (TTN) | XP_024308865.1:p.Arg27813= | |
| XM_024453098.1:c.83358G>A (TTN) | XP_024308866.1:p.Arg27786= | |
| XM_024453099.1:c.65121G>A (TTN) | XP_024308867.1:p.Arg21707= | |
| XM_024453100.1:c.54975G>A (TTN) | XP_024308868.1:p.Arg18325= |