Linked Data
ClinVar Variation Id:
191887
dbSNP Id:
rs202149931
ExAC:
2:179430304 C / T
gnomAD v2:
2-179430304-C-T
gnomAD v3:
2-178565577-C-T
gnomAD v4:
2-178565577-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565577C>T , CM000664.2:g.178565577C>T | GRCh38 |
| NC_000002.11:g.179430304C>T , CM000664.1:g.179430304C>T | GRCh37 |
| NC_000002.10:g.179138550C>T | NCBI36 |
| NG_011618.3:g.270226G>A , LRG_391:g.270226G>A | |
| NG_051363.1:g.47751C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.72851G>A (TTN) | ENSP00000343764.6:p.Arg24284His | |
| ENST00000342175.11:c.53936G>A (TTN) | ENSP00000340554.6:p.Arg17979His | |
| ENST00000359218.10:c.53735G>A (TTN) | ENSP00000352154.5:p.Arg17912His | |
| ENST00000342175.10:c.53936G>A (TTN) | ENSP00000340554.6:p.Arg17979His | |
| ENST00000342992.10:c.72851G>A (TTN) | ENSP00000343764.6:p.Arg24284His | |
| ENST00000359218.9:c.53735G>A (TTN) | ENSP00000352154.5:p.Arg17912His | |
| ENST00000460472.6:c.53360G>A (TTN) | ENSP00000434586.1:p.Arg17787His | |
| ENST00000589042.5:c.80555G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg26852His | |
| ENST00000591111.5:c.75632G>A (TTN) | ENSP00000465570.1:p.Arg25211His | |
| ENST00000615779.4:c.75632G>A (TTN) | ENSP00000483597.1:p.Arg25211His | |
| NM_001256850.1:c.75632G>A (TTN) | NP_001243779.1:p.Arg25211His | |
| NM_001267550.2:c.80555G>A (TTN) MANE Select | NP_001254479.2:p.Arg26852His | |
| NM_003319.4:c.53360G>A (TTN) | NP_003310.4:p.Arg17787His | |
| NM_133378.4:c.72851G>A (TTN) | NP_596869.4:p.Arg24284His | |
| NM_133432.3:c.53735G>A (TTN) | NP_597676.3:p.Arg17912His | |
| NM_133437.4:c.53936G>A (TTN) | NP_597681.4:p.Arg17979His | |
| NR_038271.1:n.447-5723C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-16995C>T (TTN-AS1) | ||
| XM_011511729.1:c.79652G>A (TTN) | XP_011510031.1:p.Arg26551His | |
| XM_011511730.1:c.53546G>A (TTN) | XP_011510032.1:p.Arg17849His | |
| XM_011511731.1:c.53405G>A (TTN) | XP_011510033.1:p.Arg17802His | |
| XM_017004819.1:c.79448G>A (TTN) | XP_016860308.1:p.Arg26483His | |
| XM_017004820.1:c.74846G>A (TTN) | XP_016860309.1:p.Arg24949His | |
| XM_017004821.1:c.74843G>A (TTN) | XP_016860310.1:p.Arg24948His | |
| XM_017004822.1:c.71885G>A (TTN) | XP_016860311.1:p.Arg23962His | |
| XM_017004823.1:c.53501G>A (TTN) | XP_016860312.1:p.Arg17834His | |
| XM_024453094.1:c.74996G>A (TTN) | XP_024308862.1:p.Arg24999His | |
| XM_024453095.1:c.74993G>A (TTN) | XP_024308863.1:p.Arg24998His | |
| XM_024453096.1:c.74426G>A (TTN) | XP_024308864.1:p.Arg24809His | |
| XM_024453097.1:c.71768G>A (TTN) | XP_024308865.1:p.Arg23923His | |
| XM_024453098.1:c.71687G>A (TTN) | XP_024308866.1:p.Arg23896His | |
| XM_024453099.1:c.53450G>A (TTN) | XP_024308867.1:p.Arg17817His | |
| XM_024453100.1:c.43304G>A (TTN) | XP_024308868.1:p.Arg14435His |