Linked Data
ClinVar Variation Id:
47342
dbSNP Id:
rs397517703
ExAC:
2:179434789 C / T
gnomAD v2:
2-179434789-C-T
gnomAD v3:
2-178570062-C-T
gnomAD v4:
2-178570062-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570062C>T , CM000664.2:g.178570062C>T | GRCh38 |
| NC_000002.11:g.179434789C>T , CM000664.1:g.179434789C>T | GRCh37 |
| NC_000002.10:g.179143035C>T | NCBI36 |
| NG_011618.3:g.265741G>A , LRG_391:g.265741G>A | |
| NG_051363.1:g.52236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68366G>A (TTN) | ENSP00000343764.6:p.Arg22789His | |
| ENST00000342175.11:c.49451G>A (TTN) | ENSP00000340554.6:p.Arg16484His | |
| ENST00000359218.10:c.49250G>A (TTN) | ENSP00000352154.5:p.Arg16417His | |
| ENST00000342175.10:c.49451G>A (TTN) | ENSP00000340554.6:p.Arg16484His | |
| ENST00000342992.10:c.68366G>A (TTN) | ENSP00000343764.6:p.Arg22789His | |
| ENST00000359218.9:c.49250G>A (TTN) | ENSP00000352154.5:p.Arg16417His | |
| ENST00000460472.6:c.48875G>A (TTN) | ENSP00000434586.1:p.Arg16292His | |
| ENST00000589042.5:c.76070G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg25357His | |
| ENST00000591111.5:c.71147G>A (TTN) | ENSP00000465570.1:p.Arg23716His | |
| ENST00000615779.4:c.71147G>A (TTN) | ENSP00000483597.1:p.Arg23716His | |
| NM_001256850.1:c.71147G>A (TTN) | NP_001243779.1:p.Arg23716His | |
| NM_001267550.2:c.76070G>A (TTN) MANE Select | NP_001254479.2:p.Arg25357His | |
| NM_003319.4:c.48875G>A (TTN) | NP_003310.4:p.Arg16292His | |
| NM_133378.4:c.68366G>A (TTN) | NP_596869.4:p.Arg22789His | |
| NM_133432.3:c.49250G>A (TTN) | NP_597676.3:p.Arg16417His | |
| NM_133437.4:c.49451G>A (TTN) | NP_597681.4:p.Arg16484His | |
| NR_038271.1:n.447-1238C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-12510C>T (TTN-AS1) | ||
| XM_011511729.1:c.75167G>A (TTN) | XP_011510031.1:p.Arg25056His | |
| XM_011511730.1:c.49061G>A (TTN) | XP_011510032.1:p.Arg16354His | |
| XM_011511731.1:c.48920G>A (TTN) | XP_011510033.1:p.Arg16307His | |
| XM_017004819.1:c.74963G>A (TTN) | XP_016860308.1:p.Arg24988His | |
| XM_017004820.1:c.70361G>A (TTN) | XP_016860309.1:p.Arg23454His | |
| XM_017004821.1:c.70358G>A (TTN) | XP_016860310.1:p.Arg23453His | |
| XM_017004822.1:c.67400G>A (TTN) | XP_016860311.1:p.Arg22467His | |
| XM_017004823.1:c.49016G>A (TTN) | XP_016860312.1:p.Arg16339His | |
| XM_024453094.1:c.70511G>A (TTN) | XP_024308862.1:p.Arg23504His | |
| XM_024453095.1:c.70508G>A (TTN) | XP_024308863.1:p.Arg23503His | |
| XM_024453096.1:c.69941G>A (TTN) | XP_024308864.1:p.Arg23314His | |
| XM_024453097.1:c.67283G>A (TTN) | XP_024308865.1:p.Arg22428His | |
| XM_024453098.1:c.67202G>A (TTN) | XP_024308866.1:p.Arg22401His | |
| XM_024453099.1:c.48965G>A (TTN) | XP_024308867.1:p.Arg16322His | |
| XM_024453100.1:c.38819G>A (TTN) | XP_024308868.1:p.Arg12940His |