Linked Data
ClinVar Variation Id:
228102
ClinVar RCV Id:
RCV000218302
RCV001135388
RCV001133882
RCV001133883
RCV001135386
RCV001135387
RCV002054956
dbSNP Id:
rs368996176
ExAC:
2:179477875 A / T
gnomAD v2:
2-179477875-A-T
gnomAD v3:
2-178613148-A-T
gnomAD v4:
2-178613148-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613148A>T , CM000664.2:g.178613148A>T | GRCh38 |
| NC_000002.11:g.179477875A>T , CM000664.1:g.179477875A>T | GRCh37 |
| NC_000002.10:g.179186120A>T | NCBI36 |
| NG_011618.3:g.222655T>A , LRG_391:g.222655T>A | |
| NG_051363.1:g.95322A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41944+13T>A (TTN) | ENSP00000343764.6:n.41944+13T>A | |
| ENST00000342175.11:c.23029+13T>A (TTN) | ENSP00000340554.6:n.23029+13T>A | |
| ENST00000359218.10:c.22828+13T>A (TTN) | ENSP00000352154.5:n.22828+13T>A | |
| ENST00000342175.10:c.23029+13T>A (TTN) | ENSP00000340554.6:n.23029+13T>A | |
| ENST00000342992.10:c.41944+13T>A (TTN) | ENSP00000343764.6:n.41944+13T>A | |
| ENST00000359218.9:c.22828+13T>A (TTN) | ENSP00000352154.5:n.22828+13T>A | |
| ENST00000460472.6:c.22453+13T>A (TTN) | ENSP00000434586.1:n.22453+13T>A | |
| ENST00000589042.5:c.49648+13T>A (TTN) MANE Select | ENSP00000467141.1:n.49648+13T>A | |
| ENST00000591111.5:c.44725+13T>A (TTN) | ENSP00000465570.1:n.44725+13T>A | |
| ENST00000615779.4:c.44725+13T>A (TTN) | ENSP00000483597.1:n.44725+13T>A | |
| NM_001256850.1:c.44725+13T>A (TTN) | NP_001243779.1:n.44725+13T>A | |
| NM_001267550.2:c.49648+13T>A (TTN) MANE Select | NP_001254479.2:n.49648+13T>A | |
| NM_003319.4:c.22453+13T>A (TTN) | NP_003310.4:n.22453+13T>A | |
| NM_133378.4:c.41944+13T>A (TTN) | NP_596869.4:n.41944+13T>A | |
| NM_133432.3:c.22828+13T>A (TTN) | NP_597676.3:n.22828+13T>A | |
| NM_133437.4:c.23029+13T>A (TTN) | NP_597681.4:n.23029+13T>A | |
| NR_038271.1:n.783-887A>T (TTN-AS1) | ||
| XM_011511729.1:c.48745+13T>A (TTN) | XP_011510031.1:n.48745+13T>A | |
| XM_011511730.1:c.22639+13T>A (TTN) | XP_011510032.1:n.22639+13T>A | |
| XM_011511731.1:c.22498+13T>A (TTN) | XP_011510033.1:n.22498+13T>A | |
| XM_017004819.1:c.48541+13T>A (TTN) | XP_016860308.1:n.48541+13T>A | |
| XM_017004820.1:c.43939+13T>A (TTN) | XP_016860309.1:n.43939+13T>A | |
| XM_017004821.1:c.43936+13T>A (TTN) | XP_016860310.1:n.43936+13T>A | |
| XM_017004822.1:c.40978+13T>A (TTN) | XP_016860311.1:n.40978+13T>A | |
| XM_017004823.1:c.22594+13T>A (TTN) | XP_016860312.1:n.22594+13T>A | |
| XM_024453094.1:c.44089+13T>A (TTN) | XP_024308862.1:n.44089+13T>A | |
| XM_024453095.1:c.44086+13T>A (TTN) | XP_024308863.1:n.44086+13T>A | |
| XM_024453096.1:c.43519+13T>A (TTN) | XP_024308864.1:n.43519+13T>A | |
| XM_024453097.1:c.40861+13T>A (TTN) | XP_024308865.1:n.40861+13T>A | |
| XM_024453098.1:c.40780+13T>A (TTN) | XP_024308866.1:n.40780+13T>A | |
| XM_024453099.1:c.22543+13T>A (TTN) | XP_024308867.1:n.22543+13T>A | |
| XM_024453100.1:c.12397+13T>A (TTN) | XP_024308868.1:n.12397+13T>A |