Linked Data
ClinVar Variation Id:
332784
dbSNP Id:
rs886055247
gnomAD v2:
2-179437083-C-T
gnomAD v4:
2-178572356-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572356C>T , CM000664.2:g.178572356C>T | GRCh38 |
| NC_000002.11:g.179437083C>T , CM000664.1:g.179437083C>T | GRCh37 |
| NC_000002.10:g.179145329C>T | NCBI36 |
| NG_011618.3:g.263447G>A , LRG_391:g.263447G>A | |
| NG_051363.1:g.54530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66072G>A (TTN) | ENSP00000343764.6:p.Arg22024= | |
| ENST00000342175.11:c.47157G>A (TTN) | ENSP00000340554.6:p.Arg15719= | |
| ENST00000359218.10:c.46956G>A (TTN) | ENSP00000352154.5:p.Arg15652= | |
| ENST00000342175.10:c.47157G>A (TTN) | ENSP00000340554.6:p.Arg15719= | |
| ENST00000342992.10:c.66072G>A (TTN) | ENSP00000343764.6:p.Arg22024= | |
| ENST00000359218.9:c.46956G>A (TTN) | ENSP00000352154.5:p.Arg15652= | |
| ENST00000460472.6:c.46581G>A (TTN) | ENSP00000434586.1:p.Arg15527= | |
| ENST00000589042.5:c.73776G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg24592= | |
| ENST00000591111.5:c.68853G>A (TTN) | ENSP00000465570.1:p.Arg22951= | |
| ENST00000615779.4:c.68853G>A (TTN) | ENSP00000483597.1:p.Arg22951= | |
| NM_001256850.1:c.68853G>A (TTN) | NP_001243779.1:p.Arg22951= | |
| NM_001267550.2:c.73776G>A (TTN) MANE Select | NP_001254479.2:p.Arg24592= | |
| NM_003319.4:c.46581G>A (TTN) | NP_003310.4:p.Arg15527= | |
| NM_133378.4:c.66072G>A (TTN) | NP_596869.4:p.Arg22024= | |
| NM_133432.3:c.46956G>A (TTN) | NP_597676.3:p.Arg15652= | |
| NM_133437.4:c.47157G>A (TTN) | NP_597681.4:p.Arg15719= | |
| NR_038271.1:n.596+907C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-10216C>T (TTN-AS1) | ||
| XM_011511729.1:c.72873G>A (TTN) | XP_011510031.1:p.Arg24291= | |
| XM_011511730.1:c.46767G>A (TTN) | XP_011510032.1:p.Arg15589= | |
| XM_011511731.1:c.46626G>A (TTN) | XP_011510033.1:p.Arg15542= | |
| XM_017004819.1:c.72669G>A (TTN) | XP_016860308.1:p.Arg24223= | |
| XM_017004820.1:c.68067G>A (TTN) | XP_016860309.1:p.Arg22689= | |
| XM_017004821.1:c.68064G>A (TTN) | XP_016860310.1:p.Arg22688= | |
| XM_017004822.1:c.65106G>A (TTN) | XP_016860311.1:p.Arg21702= | |
| XM_017004823.1:c.46722G>A (TTN) | XP_016860312.1:p.Arg15574= | |
| XM_024453094.1:c.68217G>A (TTN) | XP_024308862.1:p.Arg22739= | |
| XM_024453095.1:c.68214G>A (TTN) | XP_024308863.1:p.Arg22738= | |
| XM_024453096.1:c.67647G>A (TTN) | XP_024308864.1:p.Arg22549= | |
| XM_024453097.1:c.64989G>A (TTN) | XP_024308865.1:p.Arg21663= | |
| XM_024453098.1:c.64908G>A (TTN) | XP_024308866.1:p.Arg21636= | |
| XM_024453099.1:c.46671G>A (TTN) | XP_024308867.1:p.Arg15557= | |
| XM_024453100.1:c.36525G>A (TTN) | XP_024308868.1:p.Arg12175= |