Linked Data
ClinVar Variation Id:
47372
ClinVar RCV Id:
RCV000040642
RCV000172633
RCV000296264
RCV000317619
RCV000348884
RCV000397192
RCV000467348
RCV000620048
RCV000388436
RCV000852500
dbSNP Id:
rs72648206
ExAC:
2:179431633 C / T
gnomAD v2:
2-179431633-C-T
gnomAD v3:
2-178566906-C-T
gnomAD v4:
2-178566906-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566906C>T , CM000664.2:g.178566906C>T | GRCh38 |
| NC_000002.11:g.179431633C>T , CM000664.1:g.179431633C>T | GRCh37 |
| NC_000002.10:g.179139879C>T | NCBI36 |
| NG_011618.3:g.268897G>A , LRG_391:g.268897G>A | |
| NG_051363.1:g.49080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71522G>A (TTN) | ENSP00000343764.6:p.Arg23841His | |
| ENST00000342175.11:c.52607G>A (TTN) | ENSP00000340554.6:p.Arg17536His | |
| ENST00000359218.10:c.52406G>A (TTN) | ENSP00000352154.5:p.Arg17469His | |
| ENST00000342175.10:c.52607G>A (TTN) | ENSP00000340554.6:p.Arg17536His | |
| ENST00000342992.10:c.71522G>A (TTN) | ENSP00000343764.6:p.Arg23841His | |
| ENST00000359218.9:c.52406G>A (TTN) | ENSP00000352154.5:p.Arg17469His | |
| ENST00000460472.6:c.52031G>A (TTN) | ENSP00000434586.1:p.Arg17344His | |
| ENST00000589042.5:c.79226G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg26409His | |
| ENST00000591111.5:c.74303G>A (TTN) | ENSP00000465570.1:p.Arg24768His | |
| ENST00000615779.4:c.74303G>A (TTN) | ENSP00000483597.1:p.Arg24768His | |
| NM_001256850.1:c.74303G>A (TTN) | NP_001243779.1:p.Arg24768His | |
| NM_001267550.2:c.79226G>A (TTN) MANE Select | NP_001254479.2:p.Arg26409His | |
| NM_003319.4:c.52031G>A (TTN) | NP_003310.4:p.Arg17344His | |
| NM_133378.4:c.71522G>A (TTN) | NP_596869.4:p.Arg23841His | |
| NM_133432.3:c.52406G>A (TTN) | NP_597676.3:p.Arg17469His | |
| NM_133437.4:c.52607G>A (TTN) | NP_597681.4:p.Arg17536His | |
| NR_038271.1:n.447-4394C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-15666C>T (TTN-AS1) | ||
| XM_011511729.1:c.78323G>A (TTN) | XP_011510031.1:p.Arg26108His | |
| XM_011511730.1:c.52217G>A (TTN) | XP_011510032.1:p.Arg17406His | |
| XM_011511731.1:c.52076G>A (TTN) | XP_011510033.1:p.Arg17359His | |
| XM_017004819.1:c.78119G>A (TTN) | XP_016860308.1:p.Arg26040His | |
| XM_017004820.1:c.73517G>A (TTN) | XP_016860309.1:p.Arg24506His | |
| XM_017004821.1:c.73514G>A (TTN) | XP_016860310.1:p.Arg24505His | |
| XM_017004822.1:c.70556G>A (TTN) | XP_016860311.1:p.Arg23519His | |
| XM_017004823.1:c.52172G>A (TTN) | XP_016860312.1:p.Arg17391His | |
| XM_024453094.1:c.73667G>A (TTN) | XP_024308862.1:p.Arg24556His | |
| XM_024453095.1:c.73664G>A (TTN) | XP_024308863.1:p.Arg24555His | |
| XM_024453096.1:c.73097G>A (TTN) | XP_024308864.1:p.Arg24366His | |
| XM_024453097.1:c.70439G>A (TTN) | XP_024308865.1:p.Arg23480His | |
| XM_024453098.1:c.70358G>A (TTN) | XP_024308866.1:p.Arg23453His | |
| XM_024453099.1:c.52121G>A (TTN) | XP_024308867.1:p.Arg17374His | |
| XM_024453100.1:c.41975G>A (TTN) | XP_024308868.1:p.Arg13992His |