Linked Data
ClinVar Variation Id:
47201
ClinVar RCV Id:
RCV000040471
RCV000172287
RCV001086239
RCV001130768
RCV001130767
RCV001130769
RCV001170812
RCV002453331
RCV001130765
RCV001130766
dbSNP Id:
rs202240487
ExAC:
2:179452021 C / T
gnomAD v2:
2-179452021-C-T
gnomAD v3:
2-178587294-C-T
gnomAD v4:
2-178587294-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178587294C>T , CM000664.2:g.178587294C>T | GRCh38 |
| NC_000002.11:g.179452021C>T , CM000664.1:g.179452021C>T | GRCh37 |
| NC_000002.10:g.179160267C>T | NCBI36 |
| NG_011618.3:g.248509G>A , LRG_391:g.248509G>A | |
| NG_051363.1:g.69468C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56213G>A (TTN) | ENSP00000343764.6:p.Arg18738His | |
| ENST00000342175.11:c.37298G>A (TTN) | ENSP00000340554.6:p.Arg12433His | |
| ENST00000359218.10:c.37097G>A (TTN) | ENSP00000352154.5:p.Arg12366His | |
| ENST00000342175.10:c.37298G>A (TTN) | ENSP00000340554.6:p.Arg12433His | |
| ENST00000342992.10:c.56213G>A (TTN) | ENSP00000343764.6:p.Arg18738His | |
| ENST00000359218.9:c.37097G>A (TTN) | ENSP00000352154.5:p.Arg12366His | |
| ENST00000460472.6:c.36722G>A (TTN) | ENSP00000434586.1:p.Arg12241His | |
| ENST00000589042.5:c.63917G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg21306His | |
| ENST00000591111.5:c.58994G>A (TTN) | ENSP00000465570.1:p.Arg19665His | |
| ENST00000615779.4:c.58994G>A (TTN) | ENSP00000483597.1:p.Arg19665His | |
| NM_001256850.1:c.58994G>A (TTN) | NP_001243779.1:p.Arg19665His | |
| NM_001267550.2:c.63917G>A (TTN) MANE Select | NP_001254479.2:p.Arg21306His | |
| NM_003319.4:c.36722G>A (TTN) | NP_003310.4:p.Arg12241His | |
| NM_133378.4:c.56213G>A (TTN) | NP_596869.4:p.Arg18738His | |
| NM_133432.3:c.37097G>A (TTN) | NP_597676.3:p.Arg12366His | |
| NM_133437.4:c.37298G>A (TTN) | NP_597681.4:p.Arg12433His | |
| NR_038271.1:n.597-10302C>T (TTN-AS1) | ||
| NR_038272.1:n.3188+2301C>T (TTN-AS1) | ||
| XM_011511729.1:c.63014G>A (TTN) | XP_011510031.1:p.Arg21005His | |
| XM_011511730.1:c.36908G>A (TTN) | XP_011510032.1:p.Arg12303His | |
| XM_011511731.1:c.36767G>A (TTN) | XP_011510033.1:p.Arg12256His | |
| XM_017004819.1:c.62810G>A (TTN) | XP_016860308.1:p.Arg20937His | |
| XM_017004820.1:c.58208G>A (TTN) | XP_016860309.1:p.Arg19403His | |
| XM_017004821.1:c.58205G>A (TTN) | XP_016860310.1:p.Arg19402His | |
| XM_017004822.1:c.55247G>A (TTN) | XP_016860311.1:p.Arg18416His | |
| XM_017004823.1:c.36863G>A (TTN) | XP_016860312.1:p.Arg12288His | |
| XM_024453094.1:c.58358G>A (TTN) | XP_024308862.1:p.Arg19453His | |
| XM_024453095.1:c.58355G>A (TTN) | XP_024308863.1:p.Arg19452His | |
| XM_024453096.1:c.57788G>A (TTN) | XP_024308864.1:p.Arg19263His | |
| XM_024453097.1:c.55130G>A (TTN) | XP_024308865.1:p.Arg18377His | |
| XM_024453098.1:c.55049G>A (TTN) | XP_024308866.1:p.Arg18350His | |
| XM_024453099.1:c.36812G>A (TTN) | XP_024308867.1:p.Arg12271His | |
| XM_024453100.1:c.26666G>A (TTN) | XP_024308868.1:p.Arg8889His |