Linked Data
ClinVar Variation Id:
191818
dbSNP Id:
rs777626473
ExAC:
2:179397706 G / A
gnomAD v2:
2-179397706-G-A
gnomAD v3:
2-178532979-G-A
gnomAD v4:
2-178532979-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532979G>A , CM000664.2:g.178532979G>A | GRCh38 |
| NC_000002.11:g.179397706G>A , CM000664.1:g.179397706G>A | GRCh37 |
| NC_000002.10:g.179105952G>A | NCBI36 |
| NG_011618.3:g.302824C>T , LRG_391:g.302824C>T | |
| NG_051363.1:g.15153G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95932C>T (TTN) | ENSP00000343764.6:p.Arg31978Cys | |
| ENST00000342175.11:c.77017C>T (TTN) | ENSP00000340554.6:p.Arg25673Cys | |
| ENST00000359218.10:c.76816C>T (TTN) | ENSP00000352154.5:p.Arg25606Cys | |
| ENST00000342175.10:c.77017C>T (TTN) | ENSP00000340554.6:p.Arg25673Cys | |
| ENST00000342992.10:c.95932C>T (TTN) | ENSP00000343764.6:p.Arg31978Cys | |
| ENST00000359218.9:c.76816C>T (TTN) | ENSP00000352154.5:p.Arg25606Cys | |
| ENST00000460472.6:c.76441C>T (TTN) | ENSP00000434586.1:p.Arg25481Cys | |
| ENST00000589042.5:c.103636C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34546Cys | |
| ENST00000591111.5:c.98713C>T (TTN) | ENSP00000465570.1:p.Arg32905Cys | |
| ENST00000615779.4:c.98713C>T (TTN) | ENSP00000483597.1:p.Arg32905Cys | |
| NM_001256850.1:c.98713C>T (TTN) | NP_001243779.1:p.Arg32905Cys | |
| NM_001267550.2:c.103636C>T (TTN) MANE Select | NP_001254479.2:p.Arg34546Cys | |
| NM_003319.4:c.76441C>T (TTN) | NP_003310.4:p.Arg25481Cys | |
| NM_133378.4:c.95932C>T (TTN) | NP_596869.4:p.Arg31978Cys | |
| NM_133432.3:c.76816C>T (TTN) | NP_597676.3:p.Arg25606Cys | |
| NM_133437.4:c.77017C>T (TTN) | NP_597681.4:p.Arg25673Cys | |
| NR_038271.1:n.446+9343G>A (TTN-AS1) | ||
| NR_038272.1:n.220-2753G>A (TTN-AS1) | ||
| XM_011511729.1:c.102733C>T (TTN) | XP_011510031.1:p.Arg34245Cys | |
| XM_011511730.1:c.76627C>T (TTN) | XP_011510032.1:p.Arg25543Cys | |
| XM_011511731.1:c.76486C>T (TTN) | XP_011510033.1:p.Arg25496Cys | |
| XM_017004819.1:c.102529C>T (TTN) | XP_016860308.1:p.Arg34177Cys | |
| XM_017004820.1:c.97927C>T (TTN) | XP_016860309.1:p.Arg32643Cys | |
| XM_017004821.1:c.97924C>T (TTN) | XP_016860310.1:p.Arg32642Cys | |
| XM_017004822.1:c.94966C>T (TTN) | XP_016860311.1:p.Arg31656Cys | |
| XM_017004823.1:c.76582C>T (TTN) | XP_016860312.1:p.Arg25528Cys | |
| XM_024453094.1:c.98077C>T (TTN) | XP_024308862.1:p.Arg32693Cys | |
| XM_024453095.1:c.98074C>T (TTN) | XP_024308863.1:p.Arg32692Cys | |
| XM_024453096.1:c.97507C>T (TTN) | XP_024308864.1:p.Arg32503Cys | |
| XM_024453097.1:c.94849C>T (TTN) | XP_024308865.1:p.Arg31617Cys | |
| XM_024453098.1:c.94768C>T (TTN) | XP_024308866.1:p.Arg31590Cys | |
| XM_024453099.1:c.76531C>T (TTN) | XP_024308867.1:p.Arg25511Cys | |
| XM_024453100.1:c.66385C>T (TTN) | XP_024308868.1:p.Arg22129Cys |