Linked Data
ClinVar Variation Id:
47314
dbSNP Id:
rs374712231
ExAC:
2:179438371 C / T
gnomAD v2:
2-179438371-C-T
gnomAD v3:
2-178573644-C-T
gnomAD v4:
2-178573644-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573644C>T , CM000664.2:g.178573644C>T | GRCh38 |
| NC_000002.11:g.179438371C>T , CM000664.1:g.179438371C>T | GRCh37 |
| NC_000002.10:g.179146617C>T | NCBI36 |
| NG_011618.3:g.262159G>A , LRG_391:g.262159G>A | |
| NG_051363.1:g.55818C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.64784G>A (TTN) | ENSP00000343764.6:p.Arg21595His | |
| ENST00000342175.11:c.45869G>A (TTN) | ENSP00000340554.6:p.Arg15290His | |
| ENST00000359218.10:c.45668G>A (TTN) | ENSP00000352154.5:p.Arg15223His | |
| ENST00000342175.10:c.45869G>A (TTN) | ENSP00000340554.6:p.Arg15290His | |
| ENST00000342992.10:c.64784G>A (TTN) | ENSP00000343764.6:p.Arg21595His | |
| ENST00000359218.9:c.45668G>A (TTN) | ENSP00000352154.5:p.Arg15223His | |
| ENST00000460472.6:c.45293G>A (TTN) | ENSP00000434586.1:p.Arg15098His | |
| ENST00000589042.5:c.72488G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg24163His | |
| ENST00000591111.5:c.67565G>A (TTN) | ENSP00000465570.1:p.Arg22522His | |
| ENST00000615779.4:c.67565G>A (TTN) | ENSP00000483597.1:p.Arg22522His | |
| NM_001256850.1:c.67565G>A (TTN) | NP_001243779.1:p.Arg22522His | |
| NM_001267550.2:c.72488G>A (TTN) MANE Select | NP_001254479.2:p.Arg24163His | |
| NM_003319.4:c.45293G>A (TTN) | NP_003310.4:p.Arg15098His | |
| NM_133378.4:c.64784G>A (TTN) | NP_596869.4:p.Arg21595His | |
| NM_133432.3:c.45668G>A (TTN) | NP_597676.3:p.Arg15223His | |
| NM_133437.4:c.45869G>A (TTN) | NP_597681.4:p.Arg15290His | |
| NR_038271.1:n.596+2195C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-8928C>T (TTN-AS1) | ||
| XM_011511729.1:c.71585G>A (TTN) | XP_011510031.1:p.Arg23862His | |
| XM_011511730.1:c.45479G>A (TTN) | XP_011510032.1:p.Arg15160His | |
| XM_011511731.1:c.45338G>A (TTN) | XP_011510033.1:p.Arg15113His | |
| XM_017004819.1:c.71381G>A (TTN) | XP_016860308.1:p.Arg23794His | |
| XM_017004820.1:c.66779G>A (TTN) | XP_016860309.1:p.Arg22260His | |
| XM_017004821.1:c.66776G>A (TTN) | XP_016860310.1:p.Arg22259His | |
| XM_017004822.1:c.63818G>A (TTN) | XP_016860311.1:p.Arg21273His | |
| XM_017004823.1:c.45434G>A (TTN) | XP_016860312.1:p.Arg15145His | |
| XM_024453094.1:c.66929G>A (TTN) | XP_024308862.1:p.Arg22310His | |
| XM_024453095.1:c.66926G>A (TTN) | XP_024308863.1:p.Arg22309His | |
| XM_024453096.1:c.66359G>A (TTN) | XP_024308864.1:p.Arg22120His | |
| XM_024453097.1:c.63701G>A (TTN) | XP_024308865.1:p.Arg21234His | |
| XM_024453098.1:c.63620G>A (TTN) | XP_024308866.1:p.Arg21207His | |
| XM_024453099.1:c.45383G>A (TTN) | XP_024308867.1:p.Arg15128His | |
| XM_024453100.1:c.35237G>A (TTN) | XP_024308868.1:p.Arg11746His |