Linked Data
ClinVar Variation Id:
47375
ClinVar RCV Id:
RCV000040645
RCV000228748
RCV000248962
RCV000769940
RCV001132349
RCV001132348
RCV001132350
RCV001132351
RCV001132352
RCV001573281
RCV004541178
dbSNP Id:
rs56044609
ExAC:
2:179431540 C / T
gnomAD v2:
2-179431540-C-T
gnomAD v3:
2-178566813-C-T
gnomAD v4:
2-178566813-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566813C>T , CM000664.2:g.178566813C>T | GRCh38 |
| NC_000002.11:g.179431540C>T , CM000664.1:g.179431540C>T | GRCh37 |
| NC_000002.10:g.179139786C>T | NCBI36 |
| NG_011618.3:g.268990G>A , LRG_391:g.268990G>A | |
| NG_051363.1:g.48987C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71615G>A (TTN) | ENSP00000343764.6:p.Arg23872His | |
| ENST00000342175.11:c.52700G>A (TTN) | ENSP00000340554.6:p.Arg17567His | |
| ENST00000359218.10:c.52499G>A (TTN) | ENSP00000352154.5:p.Arg17500His | |
| ENST00000342175.10:c.52700G>A (TTN) | ENSP00000340554.6:p.Arg17567His | |
| ENST00000342992.10:c.71615G>A (TTN) | ENSP00000343764.6:p.Arg23872His | |
| ENST00000359218.9:c.52499G>A (TTN) | ENSP00000352154.5:p.Arg17500His | |
| ENST00000460472.6:c.52124G>A (TTN) | ENSP00000434586.1:p.Arg17375His | |
| ENST00000589042.5:c.79319G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg26440His | |
| ENST00000591111.5:c.74396G>A (TTN) | ENSP00000465570.1:p.Arg24799His | |
| ENST00000615779.4:c.74396G>A (TTN) | ENSP00000483597.1:p.Arg24799His | |
| NM_001256850.1:c.74396G>A (TTN) | NP_001243779.1:p.Arg24799His | |
| NM_001267550.2:c.79319G>A (TTN) MANE Select | NP_001254479.2:p.Arg26440His | |
| NM_003319.4:c.52124G>A (TTN) | NP_003310.4:p.Arg17375His | |
| NM_133378.4:c.71615G>A (TTN) | NP_596869.4:p.Arg23872His | |
| NM_133432.3:c.52499G>A (TTN) | NP_597676.3:p.Arg17500His | |
| NM_133437.4:c.52700G>A (TTN) | NP_597681.4:p.Arg17567His | |
| NR_038271.1:n.447-4487C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-15759C>T (TTN-AS1) | ||
| XM_011511729.1:c.78416G>A (TTN) | XP_011510031.1:p.Arg26139His | |
| XM_011511730.1:c.52310G>A (TTN) | XP_011510032.1:p.Arg17437His | |
| XM_011511731.1:c.52169G>A (TTN) | XP_011510033.1:p.Arg17390His | |
| XM_017004819.1:c.78212G>A (TTN) | XP_016860308.1:p.Arg26071His | |
| XM_017004820.1:c.73610G>A (TTN) | XP_016860309.1:p.Arg24537His | |
| XM_017004821.1:c.73607G>A (TTN) | XP_016860310.1:p.Arg24536His | |
| XM_017004822.1:c.70649G>A (TTN) | XP_016860311.1:p.Arg23550His | |
| XM_017004823.1:c.52265G>A (TTN) | XP_016860312.1:p.Arg17422His | |
| XM_024453094.1:c.73760G>A (TTN) | XP_024308862.1:p.Arg24587His | |
| XM_024453095.1:c.73757G>A (TTN) | XP_024308863.1:p.Arg24586His | |
| XM_024453096.1:c.73190G>A (TTN) | XP_024308864.1:p.Arg24397His | |
| XM_024453097.1:c.70532G>A (TTN) | XP_024308865.1:p.Arg23511His | |
| XM_024453098.1:c.70451G>A (TTN) | XP_024308866.1:p.Arg23484His | |
| XM_024453099.1:c.52214G>A (TTN) | XP_024308867.1:p.Arg17405His | |
| XM_024453100.1:c.42068G>A (TTN) | XP_024308868.1:p.Arg14023His |