Linked Data
ClinVar Variation Id:
192140
ClinVar RCV Id:
RCV000172612
RCV000220575
RCV000247259
RCV000469734
RCV000769867
RCV001133580
RCV001133581
RCV001135067
RCV001135068
RCV001135069
dbSNP Id:
rs201080904
ExAC:
2:179406266 C / T
gnomAD v2:
2-179406266-C-T
gnomAD v3:
2-178541539-C-T
gnomAD v4:
2-178541539-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178541539C>T , CM000664.2:g.178541539C>T | GRCh38 |
| NC_000002.11:g.179406266C>T , CM000664.1:g.179406266C>T | GRCh37 |
| NC_000002.10:g.179114512C>T | NCBI36 |
| NG_011618.3:g.294264G>A , LRG_391:g.294264G>A | |
| NG_051363.1:g.23713C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89834G>A (TTN) | ENSP00000343764.6:p.Arg29945His | |
| ENST00000342175.11:c.70919G>A (TTN) | ENSP00000340554.6:p.Arg23640His | |
| ENST00000359218.10:c.70718G>A (TTN) | ENSP00000352154.5:p.Arg23573His | |
| ENST00000342175.10:c.70919G>A (TTN) | ENSP00000340554.6:p.Arg23640His | |
| ENST00000342992.10:c.89834G>A (TTN) | ENSP00000343764.6:p.Arg29945His | |
| ENST00000359218.9:c.70718G>A (TTN) | ENSP00000352154.5:p.Arg23573His | |
| ENST00000460472.6:c.70343G>A (TTN) | ENSP00000434586.1:p.Arg23448His | |
| ENST00000589042.5:c.97538G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32513His | |
| ENST00000591111.5:c.92615G>A (TTN) | ENSP00000465570.1:p.Arg30872His | |
| ENST00000615779.4:c.92615G>A (TTN) | ENSP00000483597.1:p.Arg30872His | |
| NM_001256850.1:c.92615G>A (TTN) | NP_001243779.1:p.Arg30872His | |
| NM_001267550.2:c.97538G>A (TTN) MANE Select | NP_001254479.2:p.Arg32513His | |
| NM_003319.4:c.70343G>A (TTN) | NP_003310.4:p.Arg23448His | |
| NM_133378.4:c.89834G>A (TTN) | NP_596869.4:p.Arg29945His | |
| NM_133432.3:c.70718G>A (TTN) | NP_597676.3:p.Arg23573His | |
| NM_133437.4:c.70919G>A (TTN) | NP_597681.4:p.Arg23640His | |
| NR_038271.1:n.446+17903C>T (TTN-AS1) | ||
| NR_038272.1:n.1904-683C>T (TTN-AS1) | ||
| XM_011511729.1:c.96635G>A (TTN) | XP_011510031.1:p.Arg32212His | |
| XM_011511730.1:c.70529G>A (TTN) | XP_011510032.1:p.Arg23510His | |
| XM_011511731.1:c.70388G>A (TTN) | XP_011510033.1:p.Arg23463His | |
| XM_017004819.1:c.96431G>A (TTN) | XP_016860308.1:p.Arg32144His | |
| XM_017004820.1:c.91829G>A (TTN) | XP_016860309.1:p.Arg30610His | |
| XM_017004821.1:c.91826G>A (TTN) | XP_016860310.1:p.Arg30609His | |
| XM_017004822.1:c.88868G>A (TTN) | XP_016860311.1:p.Arg29623His | |
| XM_017004823.1:c.70484G>A (TTN) | XP_016860312.1:p.Arg23495His | |
| XM_024453094.1:c.91979G>A (TTN) | XP_024308862.1:p.Arg30660His | |
| XM_024453095.1:c.91976G>A (TTN) | XP_024308863.1:p.Arg30659His | |
| XM_024453096.1:c.91409G>A (TTN) | XP_024308864.1:p.Arg30470His | |
| XM_024453097.1:c.88751G>A (TTN) | XP_024308865.1:p.Arg29584His | |
| XM_024453098.1:c.88670G>A (TTN) | XP_024308866.1:p.Arg29557His | |
| XM_024453099.1:c.70433G>A (TTN) | XP_024308867.1:p.Arg23478His | |
| XM_024453100.1:c.60287G>A (TTN) | XP_024308868.1:p.Arg20096His |