Linked Data
ClinVar Variation Id:
47553
ClinVar RCV Id:
RCV000040822
RCV000244797
RCV000467863
RCV001128957
RCV001131613
RCV001128956
RCV001131614
RCV001131615
RCV004534944
RCV001529974
dbSNP Id:
rs368243641
ExAC:
2:179410719 G / A
gnomAD v2:
2-179410719-G-A
gnomAD v3:
2-178545992-G-A
gnomAD v4:
2-178545992-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545992G>A , CM000664.2:g.178545992G>A | GRCh38 |
| NC_000002.11:g.179410719G>A , CM000664.1:g.179410719G>A | GRCh37 |
| NC_000002.10:g.179118965G>A | NCBI36 |
| NG_011618.3:g.289811C>T , LRG_391:g.289811C>T | |
| NG_051363.1:g.28166G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87540C>T (TTN) | ENSP00000343764.6:p.Arg29180= | |
| ENST00000342175.11:c.68625C>T (TTN) | ENSP00000340554.6:p.Arg22875= | |
| ENST00000359218.10:c.68424C>T (TTN) | ENSP00000352154.5:p.Arg22808= | |
| ENST00000342175.10:c.68625C>T (TTN) | ENSP00000340554.6:p.Arg22875= | |
| ENST00000342992.10:c.87540C>T (TTN) | ENSP00000343764.6:p.Arg29180= | |
| ENST00000359218.9:c.68424C>T (TTN) | ENSP00000352154.5:p.Arg22808= | |
| ENST00000460472.6:c.68049C>T (TTN) | ENSP00000434586.1:p.Arg22683= | |
| ENST00000589042.5:c.95244C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31748= | |
| ENST00000591111.5:c.90321C>T (TTN) | ENSP00000465570.1:p.Arg30107= | |
| ENST00000615779.4:c.90321C>T (TTN) | ENSP00000483597.1:p.Arg30107= | |
| NM_001256850.1:c.90321C>T (TTN) | NP_001243779.1:p.Arg30107= | |
| NM_001267550.2:c.95244C>T (TTN) MANE Select | NP_001254479.2:p.Arg31748= | |
| NM_003319.4:c.68049C>T (TTN) | NP_003310.4:p.Arg22683= | |
| NM_133378.4:c.87540C>T (TTN) | NP_596869.4:p.Arg29180= | |
| NM_133432.3:c.68424C>T (TTN) | NP_597676.3:p.Arg22808= | |
| NM_133437.4:c.68625C>T (TTN) | NP_597681.4:p.Arg22875= | |
| NR_038271.1:n.446+22356G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+3631G>A (TTN-AS1) | ||
| XM_011511729.1:c.94341C>T (TTN) | XP_011510031.1:p.Arg31447= | |
| XM_011511730.1:c.68235C>T (TTN) | XP_011510032.1:p.Arg22745= | |
| XM_011511731.1:c.68094C>T (TTN) | XP_011510033.1:p.Arg22698= | |
| XM_017004819.1:c.94137C>T (TTN) | XP_016860308.1:p.Arg31379= | |
| XM_017004820.1:c.89535C>T (TTN) | XP_016860309.1:p.Arg29845= | |
| XM_017004821.1:c.89532C>T (TTN) | XP_016860310.1:p.Arg29844= | |
| XM_017004822.1:c.86574C>T (TTN) | XP_016860311.1:p.Arg28858= | |
| XM_017004823.1:c.68190C>T (TTN) | XP_016860312.1:p.Arg22730= | |
| XM_024453094.1:c.89685C>T (TTN) | XP_024308862.1:p.Arg29895= | |
| XM_024453095.1:c.89682C>T (TTN) | XP_024308863.1:p.Arg29894= | |
| XM_024453096.1:c.89115C>T (TTN) | XP_024308864.1:p.Arg29705= | |
| XM_024453097.1:c.86457C>T (TTN) | XP_024308865.1:p.Arg28819= | |
| XM_024453098.1:c.86376C>T (TTN) | XP_024308866.1:p.Arg28792= | |
| XM_024453099.1:c.68139C>T (TTN) | XP_024308867.1:p.Arg22713= | |
| XM_024453100.1:c.57993C>T (TTN) | XP_024308868.1:p.Arg19331= |