Linked Data
ClinVar Variation Id:
501809
dbSNP Id:
rs1553520236
gnomAD v3:
2-178545461-C-T
gnomAD v4:
2-178545461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545461C>T , CM000664.2:g.178545461C>T | GRCh38 |
| NC_000002.11:g.179410188C>T , CM000664.1:g.179410188C>T | GRCh37 |
| NC_000002.10:g.179118434C>T | NCBI36 |
| NG_011618.3:g.290342G>A , LRG_391:g.290342G>A | |
| NG_051363.1:g.27635C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87945G>A (TTN) | ENSP00000343764.6:p.Val29315= | |
| ENST00000342175.11:c.69030G>A (TTN) | ENSP00000340554.6:p.Val23010= | |
| ENST00000359218.10:c.68829G>A (TTN) | ENSP00000352154.5:p.Val22943= | |
| ENST00000342175.10:c.69030G>A (TTN) | ENSP00000340554.6:p.Val23010= | |
| ENST00000342992.10:c.87945G>A (TTN) | ENSP00000343764.6:p.Val29315= | |
| ENST00000359218.9:c.68829G>A (TTN) | ENSP00000352154.5:p.Val22943= | |
| ENST00000460472.6:c.68454G>A (TTN) | ENSP00000434586.1:p.Val22818= | |
| ENST00000589042.5:c.95649G>A (TTN) MANE Select | ENSP00000467141.1:p.Val31883= | |
| ENST00000591111.5:c.90726G>A (TTN) | ENSP00000465570.1:p.Val30242= | |
| ENST00000615779.4:c.90726G>A (TTN) | ENSP00000483597.1:p.Val30242= | |
| NM_001256850.1:c.90726G>A (TTN) | NP_001243779.1:p.Val30242= | |
| NM_001267550.2:c.95649G>A (TTN) MANE Select | NP_001254479.2:p.Val31883= | |
| NM_003319.4:c.68454G>A (TTN) | NP_003310.4:p.Val22818= | |
| NM_133378.4:c.87945G>A (TTN) | NP_596869.4:p.Val29315= | |
| NM_133432.3:c.68829G>A (TTN) | NP_597676.3:p.Val22943= | |
| NM_133437.4:c.69030G>A (TTN) | NP_597681.4:p.Val23010= | |
| NR_038271.1:n.446+21825C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+3100C>T (TTN-AS1) | ||
| XM_011511729.1:c.94746G>A (TTN) | XP_011510031.1:p.Val31582= | |
| XM_011511730.1:c.68640G>A (TTN) | XP_011510032.1:p.Val22880= | |
| XM_011511731.1:c.68499G>A (TTN) | XP_011510033.1:p.Val22833= | |
| XM_017004819.1:c.94542G>A (TTN) | XP_016860308.1:p.Val31514= | |
| XM_017004820.1:c.89940G>A (TTN) | XP_016860309.1:p.Val29980= | |
| XM_017004821.1:c.89937G>A (TTN) | XP_016860310.1:p.Val29979= | |
| XM_017004822.1:c.86979G>A (TTN) | XP_016860311.1:p.Val28993= | |
| XM_017004823.1:c.68595G>A (TTN) | XP_016860312.1:p.Val22865= | |
| XM_024453094.1:c.90090G>A (TTN) | XP_024308862.1:p.Val30030= | |
| XM_024453095.1:c.90087G>A (TTN) | XP_024308863.1:p.Val30029= | |
| XM_024453096.1:c.89520G>A (TTN) | XP_024308864.1:p.Val29840= | |
| XM_024453097.1:c.86862G>A (TTN) | XP_024308865.1:p.Val28954= | |
| XM_024453098.1:c.86781G>A (TTN) | XP_024308866.1:p.Val28927= | |
| XM_024453099.1:c.68544G>A (TTN) | XP_024308867.1:p.Val22848= | |
| XM_024453100.1:c.58398G>A (TTN) | XP_024308868.1:p.Val19466= |