Linked Data
ClinVar Variation Id:
167770
dbSNP Id:
rs542720402
ExAC:
2:179435704 C / T
gnomAD v2:
2-179435704-C-T
gnomAD v3:
2-178570977-C-T
gnomAD v4:
2-178570977-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570977C>T , CM000664.2:g.178570977C>T | GRCh38 |
| NC_000002.11:g.179435704C>T , CM000664.1:g.179435704C>T | GRCh37 |
| NC_000002.10:g.179143950C>T | NCBI36 |
| NG_011618.3:g.264826G>A , LRG_391:g.264826G>A | |
| NG_051363.1:g.53151C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67451G>A (TTN) | ENSP00000343764.6:p.Arg22484His | |
| ENST00000342175.11:c.48536G>A (TTN) | ENSP00000340554.6:p.Arg16179His | |
| ENST00000359218.10:c.48335G>A (TTN) | ENSP00000352154.5:p.Arg16112His | |
| ENST00000342175.10:c.48536G>A (TTN) | ENSP00000340554.6:p.Arg16179His | |
| ENST00000342992.10:c.67451G>A (TTN) | ENSP00000343764.6:p.Arg22484His | |
| ENST00000359218.9:c.48335G>A (TTN) | ENSP00000352154.5:p.Arg16112His | |
| ENST00000460472.6:c.47960G>A (TTN) | ENSP00000434586.1:p.Arg15987His | |
| ENST00000589042.5:c.75155G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg25052His | |
| ENST00000591111.5:c.70232G>A (TTN) | ENSP00000465570.1:p.Arg23411His | |
| ENST00000615779.4:c.70232G>A (TTN) | ENSP00000483597.1:p.Arg23411His | |
| NM_001256850.1:c.70232G>A (TTN) | NP_001243779.1:p.Arg23411His | |
| NM_001267550.2:c.75155G>A (TTN) MANE Select | NP_001254479.2:p.Arg25052His | |
| NM_003319.4:c.47960G>A (TTN) | NP_003310.4:p.Arg15987His | |
| NM_133378.4:c.67451G>A (TTN) | NP_596869.4:p.Arg22484His | |
| NM_133432.3:c.48335G>A (TTN) | NP_597676.3:p.Arg16112His | |
| NM_133437.4:c.48536G>A (TTN) | NP_597681.4:p.Arg16179His | |
| NR_038271.1:n.447-323C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-11595C>T (TTN-AS1) | ||
| XM_011511729.1:c.74252G>A (TTN) | XP_011510031.1:p.Arg24751His | |
| XM_011511730.1:c.48146G>A (TTN) | XP_011510032.1:p.Arg16049His | |
| XM_011511731.1:c.48005G>A (TTN) | XP_011510033.1:p.Arg16002His | |
| XM_017004819.1:c.74048G>A (TTN) | XP_016860308.1:p.Arg24683His | |
| XM_017004820.1:c.69446G>A (TTN) | XP_016860309.1:p.Arg23149His | |
| XM_017004821.1:c.69443G>A (TTN) | XP_016860310.1:p.Arg23148His | |
| XM_017004822.1:c.66485G>A (TTN) | XP_016860311.1:p.Arg22162His | |
| XM_017004823.1:c.48101G>A (TTN) | XP_016860312.1:p.Arg16034His | |
| XM_024453094.1:c.69596G>A (TTN) | XP_024308862.1:p.Arg23199His | |
| XM_024453095.1:c.69593G>A (TTN) | XP_024308863.1:p.Arg23198His | |
| XM_024453096.1:c.69026G>A (TTN) | XP_024308864.1:p.Arg23009His | |
| XM_024453097.1:c.66368G>A (TTN) | XP_024308865.1:p.Arg22123His | |
| XM_024453098.1:c.66287G>A (TTN) | XP_024308866.1:p.Arg22096His | |
| XM_024453099.1:c.48050G>A (TTN) | XP_024308867.1:p.Arg16017His | |
| XM_024453100.1:c.37904G>A (TTN) | XP_024308868.1:p.Arg12635His |