Linked Data
ClinVar Variation Id:
47194
ClinVar RCV Id:
RCV000040464
RCV000172292
RCV000248255
RCV000269467
RCV000332764
RCV000328753
RCV000367338
RCV000382596
RCV000852826
RCV001080206
dbSNP Id:
rs200726948
ExAC:
2:179452782 G / A
gnomAD v2:
2-179452782-G-A
gnomAD v3:
2-178588055-G-A
gnomAD v4:
2-178588055-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588055G>A , CM000664.2:g.178588055G>A | GRCh38 |
| NC_000002.11:g.179452782G>A , CM000664.1:g.179452782G>A | GRCh37 |
| NC_000002.10:g.179161028G>A | NCBI36 |
| NG_011618.3:g.247748C>T , LRG_391:g.247748C>T | |
| NG_051363.1:g.70229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55648C>T (TTN) | ENSP00000343764.6:p.Arg18550Trp | |
| ENST00000342175.11:c.36733C>T (TTN) | ENSP00000340554.6:p.Arg12245Trp | |
| ENST00000359218.10:c.36532C>T (TTN) | ENSP00000352154.5:p.Arg12178Trp | |
| ENST00000342175.10:c.36733C>T (TTN) | ENSP00000340554.6:p.Arg12245Trp | |
| ENST00000342992.10:c.55648C>T (TTN) | ENSP00000343764.6:p.Arg18550Trp | |
| ENST00000359218.9:c.36532C>T (TTN) | ENSP00000352154.5:p.Arg12178Trp | |
| ENST00000460472.6:c.36157C>T (TTN) | ENSP00000434586.1:p.Arg12053Trp | |
| ENST00000589042.5:c.63352C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21118Trp | |
| ENST00000591111.5:c.58429C>T (TTN) | ENSP00000465570.1:p.Arg19477Trp | |
| ENST00000615779.4:c.58429C>T (TTN) | ENSP00000483597.1:p.Arg19477Trp | |
| NM_001256850.1:c.58429C>T (TTN) | NP_001243779.1:p.Arg19477Trp | |
| NM_001267550.2:c.63352C>T (TTN) MANE Select | NP_001254479.2:p.Arg21118Trp | |
| NM_003319.4:c.36157C>T (TTN) | NP_003310.4:p.Arg12053Trp | |
| NM_133378.4:c.55648C>T (TTN) | NP_596869.4:p.Arg18550Trp | |
| NM_133432.3:c.36532C>T (TTN) | NP_597676.3:p.Arg12178Trp | |
| NM_133437.4:c.36733C>T (TTN) | NP_597681.4:p.Arg12245Trp | |
| NR_038271.1:n.597-9541G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+3062G>A (TTN-AS1) | ||
| XM_011511729.1:c.62449C>T (TTN) | XP_011510031.1:p.Arg20817Trp | |
| XM_011511730.1:c.36343C>T (TTN) | XP_011510032.1:p.Arg12115Trp | |
| XM_011511731.1:c.36202C>T (TTN) | XP_011510033.1:p.Arg12068Trp | |
| XM_017004819.1:c.62245C>T (TTN) | XP_016860308.1:p.Arg20749Trp | |
| XM_017004820.1:c.57643C>T (TTN) | XP_016860309.1:p.Arg19215Trp | |
| XM_017004821.1:c.57640C>T (TTN) | XP_016860310.1:p.Arg19214Trp | |
| XM_017004822.1:c.54682C>T (TTN) | XP_016860311.1:p.Arg18228Trp | |
| XM_017004823.1:c.36298C>T (TTN) | XP_016860312.1:p.Arg12100Trp | |
| XM_024453094.1:c.57793C>T (TTN) | XP_024308862.1:p.Arg19265Trp | |
| XM_024453095.1:c.57790C>T (TTN) | XP_024308863.1:p.Arg19264Trp | |
| XM_024453096.1:c.57223C>T (TTN) | XP_024308864.1:p.Arg19075Trp | |
| XM_024453097.1:c.54565C>T (TTN) | XP_024308865.1:p.Arg18189Trp | |
| XM_024453098.1:c.54484C>T (TTN) | XP_024308866.1:p.Arg18162Trp | |
| XM_024453099.1:c.36247C>T (TTN) | XP_024308867.1:p.Arg12083Trp | |
| XM_024453100.1:c.26101C>T (TTN) | XP_024308868.1:p.Arg8701Trp |