Linked Data
ClinVar Variation Id:
535401
dbSNP Id:
rs909041164
gnomAD v2:
2-179435848-C-T
gnomAD v3:
2-178571121-C-T
gnomAD v4:
2-178571121-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571121C>T , CM000664.2:g.178571121C>T | GRCh38 |
| NC_000002.11:g.179435848C>T , CM000664.1:g.179435848C>T | GRCh37 |
| NC_000002.10:g.179144094C>T | NCBI36 |
| NG_011618.3:g.264682G>A , LRG_391:g.264682G>A | |
| NG_051363.1:g.53295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67307G>A (TTN) | ENSP00000343764.6:p.Arg22436His | |
| ENST00000342175.11:c.48392G>A (TTN) | ENSP00000340554.6:p.Arg16131His | |
| ENST00000359218.10:c.48191G>A (TTN) | ENSP00000352154.5:p.Arg16064His | |
| ENST00000342175.10:c.48392G>A (TTN) | ENSP00000340554.6:p.Arg16131His | |
| ENST00000342992.10:c.67307G>A (TTN) | ENSP00000343764.6:p.Arg22436His | |
| ENST00000359218.9:c.48191G>A (TTN) | ENSP00000352154.5:p.Arg16064His | |
| ENST00000460472.6:c.47816G>A (TTN) | ENSP00000434586.1:p.Arg15939His | |
| ENST00000589042.5:c.75011G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg25004His | |
| ENST00000591111.5:c.70088G>A (TTN) | ENSP00000465570.1:p.Arg23363His | |
| ENST00000615779.4:c.70088G>A (TTN) | ENSP00000483597.1:p.Arg23363His | |
| NM_001256850.1:c.70088G>A (TTN) | NP_001243779.1:p.Arg23363His | |
| NM_001267550.2:c.75011G>A (TTN) MANE Select | NP_001254479.2:p.Arg25004His | |
| NM_003319.4:c.47816G>A (TTN) | NP_003310.4:p.Arg15939His | |
| NM_133378.4:c.67307G>A (TTN) | NP_596869.4:p.Arg22436His | |
| NM_133432.3:c.48191G>A (TTN) | NP_597676.3:p.Arg16064His | |
| NM_133437.4:c.48392G>A (TTN) | NP_597681.4:p.Arg16131His | |
| NR_038271.1:n.447-179C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-11451C>T (TTN-AS1) | ||
| XM_011511729.1:c.74108G>A (TTN) | XP_011510031.1:p.Arg24703His | |
| XM_011511730.1:c.48002G>A (TTN) | XP_011510032.1:p.Arg16001His | |
| XM_011511731.1:c.47861G>A (TTN) | XP_011510033.1:p.Arg15954His | |
| XM_017004819.1:c.73904G>A (TTN) | XP_016860308.1:p.Arg24635His | |
| XM_017004820.1:c.69302G>A (TTN) | XP_016860309.1:p.Arg23101His | |
| XM_017004821.1:c.69299G>A (TTN) | XP_016860310.1:p.Arg23100His | |
| XM_017004822.1:c.66341G>A (TTN) | XP_016860311.1:p.Arg22114His | |
| XM_017004823.1:c.47957G>A (TTN) | XP_016860312.1:p.Arg15986His | |
| XM_024453094.1:c.69452G>A (TTN) | XP_024308862.1:p.Arg23151His | |
| XM_024453095.1:c.69449G>A (TTN) | XP_024308863.1:p.Arg23150His | |
| XM_024453096.1:c.68882G>A (TTN) | XP_024308864.1:p.Arg22961His | |
| XM_024453097.1:c.66224G>A (TTN) | XP_024308865.1:p.Arg22075His | |
| XM_024453098.1:c.66143G>A (TTN) | XP_024308866.1:p.Arg22048His | |
| XM_024453099.1:c.47906G>A (TTN) | XP_024308867.1:p.Arg15969His | |
| XM_024453100.1:c.37760G>A (TTN) | XP_024308868.1:p.Arg12587His |