Linked Data
ClinVar Variation Id:
467490
ClinVar RCV Id:
RCV000734884
RCV001079343
RCV001135500
RCV001135501
RCV001135502
RCV001135503
RCV001135499
RCV002341353
dbSNP Id:
rs561977468
ExAC:
2:179434249 C / T
gnomAD v2:
2-179434249-C-T
gnomAD v3:
2-178569522-C-T
gnomAD v4:
2-178569522-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569522C>T , CM000664.2:g.178569522C>T | GRCh38 |
| NC_000002.11:g.179434249C>T , CM000664.1:g.179434249C>T | GRCh37 |
| NC_000002.10:g.179142495C>T | NCBI36 |
| NG_011618.3:g.266281G>A , LRG_391:g.266281G>A | |
| NG_051363.1:g.51696C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68906G>A (TTN) | ENSP00000343764.6:p.Arg22969His | |
| ENST00000342175.11:c.49991G>A (TTN) | ENSP00000340554.6:p.Arg16664His | |
| ENST00000359218.10:c.49790G>A (TTN) | ENSP00000352154.5:p.Arg16597His | |
| ENST00000342175.10:c.49991G>A (TTN) | ENSP00000340554.6:p.Arg16664His | |
| ENST00000342992.10:c.68906G>A (TTN) | ENSP00000343764.6:p.Arg22969His | |
| ENST00000359218.9:c.49790G>A (TTN) | ENSP00000352154.5:p.Arg16597His | |
| ENST00000460472.6:c.49415G>A (TTN) | ENSP00000434586.1:p.Arg16472His | |
| ENST00000589042.5:c.76610G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg25537His | |
| ENST00000591111.5:c.71687G>A (TTN) | ENSP00000465570.1:p.Arg23896His | |
| ENST00000615779.4:c.71687G>A (TTN) | ENSP00000483597.1:p.Arg23896His | |
| NM_001256850.1:c.71687G>A (TTN) | NP_001243779.1:p.Arg23896His | |
| NM_001267550.2:c.76610G>A (TTN) MANE Select | NP_001254479.2:p.Arg25537His | |
| NM_003319.4:c.49415G>A (TTN) | NP_003310.4:p.Arg16472His | |
| NM_133378.4:c.68906G>A (TTN) | NP_596869.4:p.Arg22969His | |
| NM_133432.3:c.49790G>A (TTN) | NP_597676.3:p.Arg16597His | |
| NM_133437.4:c.49991G>A (TTN) | NP_597681.4:p.Arg16664His | |
| NR_038271.1:n.447-1778C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13050C>T (TTN-AS1) | ||
| XM_011511729.1:c.75707G>A (TTN) | XP_011510031.1:p.Arg25236His | |
| XM_011511730.1:c.49601G>A (TTN) | XP_011510032.1:p.Arg16534His | |
| XM_011511731.1:c.49460G>A (TTN) | XP_011510033.1:p.Arg16487His | |
| XM_017004819.1:c.75503G>A (TTN) | XP_016860308.1:p.Arg25168His | |
| XM_017004820.1:c.70901G>A (TTN) | XP_016860309.1:p.Arg23634His | |
| XM_017004821.1:c.70898G>A (TTN) | XP_016860310.1:p.Arg23633His | |
| XM_017004822.1:c.67940G>A (TTN) | XP_016860311.1:p.Arg22647His | |
| XM_017004823.1:c.49556G>A (TTN) | XP_016860312.1:p.Arg16519His | |
| XM_024453094.1:c.71051G>A (TTN) | XP_024308862.1:p.Arg23684His | |
| XM_024453095.1:c.71048G>A (TTN) | XP_024308863.1:p.Arg23683His | |
| XM_024453096.1:c.70481G>A (TTN) | XP_024308864.1:p.Arg23494His | |
| XM_024453097.1:c.67823G>A (TTN) | XP_024308865.1:p.Arg22608His | |
| XM_024453098.1:c.67742G>A (TTN) | XP_024308866.1:p.Arg22581His | |
| XM_024453099.1:c.49505G>A (TTN) | XP_024308867.1:p.Arg16502His | |
| XM_024453100.1:c.39359G>A (TTN) | XP_024308868.1:p.Arg13120His |