Linked Data
ClinVar Variation Id:
535597
dbSNP Id:
rs755174224
ExAC:
2:179437867 C / T
gnomAD v2:
2-179437867-C-T
gnomAD v3:
2-178573140-C-T
gnomAD v4:
2-178573140-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178573140C>T , CM000664.2:g.178573140C>T | GRCh38 |
| NC_000002.11:g.179437867C>T , CM000664.1:g.179437867C>T | GRCh37 |
| NC_000002.10:g.179146113C>T | NCBI36 |
| NG_011618.3:g.262663G>A , LRG_391:g.262663G>A | |
| NG_051363.1:g.55314C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65288G>A (TTN) | ENSP00000343764.6:p.Arg21763His | |
| ENST00000342175.11:c.46373G>A (TTN) | ENSP00000340554.6:p.Arg15458His | |
| ENST00000359218.10:c.46172G>A (TTN) | ENSP00000352154.5:p.Arg15391His | |
| ENST00000342175.10:c.46373G>A (TTN) | ENSP00000340554.6:p.Arg15458His | |
| ENST00000342992.10:c.65288G>A (TTN) | ENSP00000343764.6:p.Arg21763His | |
| ENST00000359218.9:c.46172G>A (TTN) | ENSP00000352154.5:p.Arg15391His | |
| ENST00000460472.6:c.45797G>A (TTN) | ENSP00000434586.1:p.Arg15266His | |
| ENST00000589042.5:c.72992G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg24331His | |
| ENST00000591111.5:c.68069G>A (TTN) | ENSP00000465570.1:p.Arg22690His | |
| ENST00000615779.4:c.68069G>A (TTN) | ENSP00000483597.1:p.Arg22690His | |
| NM_001256850.1:c.68069G>A (TTN) | NP_001243779.1:p.Arg22690His | |
| NM_001267550.2:c.72992G>A (TTN) MANE Select | NP_001254479.2:p.Arg24331His | |
| NM_003319.4:c.45797G>A (TTN) | NP_003310.4:p.Arg15266His | |
| NM_133378.4:c.65288G>A (TTN) | NP_596869.4:p.Arg21763His | |
| NM_133432.3:c.46172G>A (TTN) | NP_597676.3:p.Arg15391His | |
| NM_133437.4:c.46373G>A (TTN) | NP_597681.4:p.Arg15458His | |
| NR_038271.1:n.596+1691C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-9432C>T (TTN-AS1) | ||
| XM_011511729.1:c.72089G>A (TTN) | XP_011510031.1:p.Arg24030His | |
| XM_011511730.1:c.45983G>A (TTN) | XP_011510032.1:p.Arg15328His | |
| XM_011511731.1:c.45842G>A (TTN) | XP_011510033.1:p.Arg15281His | |
| XM_017004819.1:c.71885G>A (TTN) | XP_016860308.1:p.Arg23962His | |
| XM_017004820.1:c.67283G>A (TTN) | XP_016860309.1:p.Arg22428His | |
| XM_017004821.1:c.67280G>A (TTN) | XP_016860310.1:p.Arg22427His | |
| XM_017004822.1:c.64322G>A (TTN) | XP_016860311.1:p.Arg21441His | |
| XM_017004823.1:c.45938G>A (TTN) | XP_016860312.1:p.Arg15313His | |
| XM_024453094.1:c.67433G>A (TTN) | XP_024308862.1:p.Arg22478His | |
| XM_024453095.1:c.67430G>A (TTN) | XP_024308863.1:p.Arg22477His | |
| XM_024453096.1:c.66863G>A (TTN) | XP_024308864.1:p.Arg22288His | |
| XM_024453097.1:c.64205G>A (TTN) | XP_024308865.1:p.Arg21402His | |
| XM_024453098.1:c.64124G>A (TTN) | XP_024308866.1:p.Arg21375His | |
| XM_024453099.1:c.45887G>A (TTN) | XP_024308867.1:p.Arg15296His | |
| XM_024453100.1:c.35741G>A (TTN) | XP_024308868.1:p.Arg11914His |