Linked Data
ClinVar Variation Id:
202761
ClinVar RCV Id:
RCV000184691
RCV000229909
RCV001135743
RCV001134248
RCV001134249
RCV001134250
RCV001135742
RCV001171288
RCV002453679
dbSNP Id:
rs532844402
ExAC:
2:179454027 C / T
gnomAD v2:
2-179454027-C-T
gnomAD v3:
2-178589300-C-T
gnomAD v4:
2-178589300-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589300C>T , CM000664.2:g.178589300C>T | GRCh38 |
| NC_000002.11:g.179454027C>T , CM000664.1:g.179454027C>T | GRCh37 |
| NC_000002.10:g.179162273C>T | NCBI36 |
| NG_011618.3:g.246503G>A , LRG_391:g.246503G>A | |
| NG_051363.1:g.71474C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54721G>A (TTN) | ENSP00000343764.6:p.Ala18241Thr | |
| ENST00000342175.11:c.35806G>A (TTN) | ENSP00000340554.6:p.Ala11936Thr | |
| ENST00000359218.10:c.35605G>A (TTN) | ENSP00000352154.5:p.Ala11869Thr | |
| ENST00000342175.10:c.35806G>A (TTN) | ENSP00000340554.6:p.Ala11936Thr | |
| ENST00000342992.10:c.54721G>A (TTN) | ENSP00000343764.6:p.Ala18241Thr | |
| ENST00000359218.9:c.35605G>A (TTN) | ENSP00000352154.5:p.Ala11869Thr | |
| ENST00000460472.6:c.35230G>A (TTN) | ENSP00000434586.1:p.Ala11744Thr | |
| ENST00000589042.5:c.62425G>A (TTN) MANE Select | ENSP00000467141.1:p.Ala20809Thr | |
| ENST00000591111.5:c.57502G>A (TTN) | ENSP00000465570.1:p.Ala19168Thr | |
| ENST00000615779.4:c.57502G>A (TTN) | ENSP00000483597.1:p.Ala19168Thr | |
| NM_001256850.1:c.57502G>A (TTN) | NP_001243779.1:p.Ala19168Thr | |
| NM_001267550.2:c.62425G>A (TTN) MANE Select | NP_001254479.2:p.Ala20809Thr | |
| NM_003319.4:c.35230G>A (TTN) | NP_003310.4:p.Ala11744Thr | |
| NM_133378.4:c.54721G>A (TTN) | NP_596869.4:p.Ala18241Thr | |
| NM_133432.3:c.35605G>A (TTN) | NP_597676.3:p.Ala11869Thr | |
| NM_133437.4:c.35806G>A (TTN) | NP_597681.4:p.Ala11936Thr | |
| NR_038271.1:n.597-8296C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-1839C>T (TTN-AS1) | ||
| XM_011511729.1:c.61522G>A (TTN) | XP_011510031.1:p.Ala20508Thr | |
| XM_011511730.1:c.35416G>A (TTN) | XP_011510032.1:p.Ala11806Thr | |
| XM_011511731.1:c.35275G>A (TTN) | XP_011510033.1:p.Ala11759Thr | |
| XM_017004819.1:c.61318G>A (TTN) | XP_016860308.1:p.Ala20440Thr | |
| XM_017004820.1:c.56716G>A (TTN) | XP_016860309.1:p.Ala18906Thr | |
| XM_017004821.1:c.56713G>A (TTN) | XP_016860310.1:p.Ala18905Thr | |
| XM_017004822.1:c.53755G>A (TTN) | XP_016860311.1:p.Ala17919Thr | |
| XM_017004823.1:c.35371G>A (TTN) | XP_016860312.1:p.Ala11791Thr | |
| XM_024453094.1:c.56866G>A (TTN) | XP_024308862.1:p.Ala18956Thr | |
| XM_024453095.1:c.56863G>A (TTN) | XP_024308863.1:p.Ala18955Thr | |
| XM_024453096.1:c.56296G>A (TTN) | XP_024308864.1:p.Ala18766Thr | |
| XM_024453097.1:c.53638G>A (TTN) | XP_024308865.1:p.Ala17880Thr | |
| XM_024453098.1:c.53557G>A (TTN) | XP_024308866.1:p.Ala17853Thr | |
| XM_024453099.1:c.35320G>A (TTN) | XP_024308867.1:p.Ala11774Thr | |
| XM_024453100.1:c.25174G>A (TTN) | XP_024308868.1:p.Ala8392Thr |