Linked Data
ClinVar Variation Id:
535211
dbSNP Id:
rs541040798
ExAC:
2:179411904 G / A
gnomAD v2:
2-179411904-G-A
gnomAD v3:
2-178547177-G-A
gnomAD v4:
2-178547177-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547177G>A , CM000664.2:g.178547177G>A | GRCh38 |
| NC_000002.11:g.179411904G>A , CM000664.1:g.179411904G>A | GRCh37 |
| NC_000002.10:g.179120150G>A | NCBI36 |
| NG_011618.3:g.288626C>T , LRG_391:g.288626C>T | |
| NG_051363.1:g.29351G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86644C>T (TTN) | ENSP00000343764.6:p.Arg28882Cys | |
| ENST00000342175.11:c.67729C>T (TTN) | ENSP00000340554.6:p.Arg22577Cys | |
| ENST00000359218.10:c.67528C>T (TTN) | ENSP00000352154.5:p.Arg22510Cys | |
| ENST00000342175.10:c.67729C>T (TTN) | ENSP00000340554.6:p.Arg22577Cys | |
| ENST00000342992.10:c.86644C>T (TTN) | ENSP00000343764.6:p.Arg28882Cys | |
| ENST00000359218.9:c.67528C>T (TTN) | ENSP00000352154.5:p.Arg22510Cys | |
| ENST00000460472.6:c.67153C>T (TTN) | ENSP00000434586.1:p.Arg22385Cys | |
| ENST00000589042.5:c.94348C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31450Cys | |
| ENST00000591111.5:c.89425C>T (TTN) | ENSP00000465570.1:p.Arg29809Cys | |
| ENST00000615779.4:c.89425C>T (TTN) | ENSP00000483597.1:p.Arg29809Cys | |
| NM_001256850.1:c.89425C>T (TTN) | NP_001243779.1:p.Arg29809Cys | |
| NM_001267550.2:c.94348C>T (TTN) MANE Select | NP_001254479.2:p.Arg31450Cys | |
| NM_003319.4:c.67153C>T (TTN) | NP_003310.4:p.Arg22385Cys | |
| NM_133378.4:c.86644C>T (TTN) | NP_596869.4:p.Arg28882Cys | |
| NM_133432.3:c.67528C>T (TTN) | NP_597676.3:p.Arg22510Cys | |
| NM_133437.4:c.67729C>T (TTN) | NP_597681.4:p.Arg22577Cys | |
| NR_038271.1:n.446+23541G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+4816G>A (TTN-AS1) | ||
| XM_011511729.1:c.93445C>T (TTN) | XP_011510031.1:p.Arg31149Cys | |
| XM_011511730.1:c.67339C>T (TTN) | XP_011510032.1:p.Arg22447Cys | |
| XM_011511731.1:c.67198C>T (TTN) | XP_011510033.1:p.Arg22400Cys | |
| XM_017004819.1:c.93241C>T (TTN) | XP_016860308.1:p.Arg31081Cys | |
| XM_017004820.1:c.88639C>T (TTN) | XP_016860309.1:p.Arg29547Cys | |
| XM_017004821.1:c.88636C>T (TTN) | XP_016860310.1:p.Arg29546Cys | |
| XM_017004822.1:c.85678C>T (TTN) | XP_016860311.1:p.Arg28560Cys | |
| XM_017004823.1:c.67294C>T (TTN) | XP_016860312.1:p.Arg22432Cys | |
| XM_024453094.1:c.88789C>T (TTN) | XP_024308862.1:p.Arg29597Cys | |
| XM_024453095.1:c.88786C>T (TTN) | XP_024308863.1:p.Arg29596Cys | |
| XM_024453096.1:c.88219C>T (TTN) | XP_024308864.1:p.Arg29407Cys | |
| XM_024453097.1:c.85561C>T (TTN) | XP_024308865.1:p.Arg28521Cys | |
| XM_024453098.1:c.85480C>T (TTN) | XP_024308866.1:p.Arg28494Cys | |
| XM_024453099.1:c.67243C>T (TTN) | XP_024308867.1:p.Arg22415Cys | |
| XM_024453100.1:c.57097C>T (TTN) | XP_024308868.1:p.Arg19033Cys |