Linked Data
ClinVar Variation Id:
405063
dbSNP Id:
rs776256093
ExAC:
2:179431313 C / T
gnomAD v2:
2-179431313-C-T
gnomAD v3:
2-178566586-C-T
gnomAD v4:
2-178566586-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566586C>T , CM000664.2:g.178566586C>T | GRCh38 |
| NC_000002.11:g.179431313C>T , CM000664.1:g.179431313C>T | GRCh37 |
| NC_000002.10:g.179139559C>T | NCBI36 |
| NG_011618.3:g.269217G>A , LRG_391:g.269217G>A | |
| NG_051363.1:g.48760C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71842G>A (TTN) | ENSP00000343764.6:p.Gly23948Ser | |
| ENST00000342175.11:c.52927G>A (TTN) | ENSP00000340554.6:p.Gly17643Ser | |
| ENST00000359218.10:c.52726G>A (TTN) | ENSP00000352154.5:p.Gly17576Ser | |
| ENST00000342175.10:c.52927G>A (TTN) | ENSP00000340554.6:p.Gly17643Ser | |
| ENST00000342992.10:c.71842G>A (TTN) | ENSP00000343764.6:p.Gly23948Ser | |
| ENST00000359218.9:c.52726G>A (TTN) | ENSP00000352154.5:p.Gly17576Ser | |
| ENST00000460472.6:c.52351G>A (TTN) | ENSP00000434586.1:p.Gly17451Ser | |
| ENST00000589042.5:c.79546G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly26516Ser | |
| ENST00000591111.5:c.74623G>A (TTN) | ENSP00000465570.1:p.Gly24875Ser | |
| ENST00000615779.4:c.74623G>A (TTN) | ENSP00000483597.1:p.Gly24875Ser | |
| NM_001256850.1:c.74623G>A (TTN) | NP_001243779.1:p.Gly24875Ser | |
| NM_001267550.2:c.79546G>A (TTN) MANE Select | NP_001254479.2:p.Gly26516Ser | |
| NM_003319.4:c.52351G>A (TTN) | NP_003310.4:p.Gly17451Ser | |
| NM_133378.4:c.71842G>A (TTN) | NP_596869.4:p.Gly23948Ser | |
| NM_133432.3:c.52726G>A (TTN) | NP_597676.3:p.Gly17576Ser | |
| NM_133437.4:c.52927G>A (TTN) | NP_597681.4:p.Gly17643Ser | |
| NR_038271.1:n.447-4714C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-15986C>T (TTN-AS1) | ||
| XM_011511729.1:c.78643G>A (TTN) | XP_011510031.1:p.Gly26215Ser | |
| XM_011511730.1:c.52537G>A (TTN) | XP_011510032.1:p.Gly17513Ser | |
| XM_011511731.1:c.52396G>A (TTN) | XP_011510033.1:p.Gly17466Ser | |
| XM_017004819.1:c.78439G>A (TTN) | XP_016860308.1:p.Gly26147Ser | |
| XM_017004820.1:c.73837G>A (TTN) | XP_016860309.1:p.Gly24613Ser | |
| XM_017004821.1:c.73834G>A (TTN) | XP_016860310.1:p.Gly24612Ser | |
| XM_017004822.1:c.70876G>A (TTN) | XP_016860311.1:p.Gly23626Ser | |
| XM_017004823.1:c.52492G>A (TTN) | XP_016860312.1:p.Gly17498Ser | |
| XM_024453094.1:c.73987G>A (TTN) | XP_024308862.1:p.Gly24663Ser | |
| XM_024453095.1:c.73984G>A (TTN) | XP_024308863.1:p.Gly24662Ser | |
| XM_024453096.1:c.73417G>A (TTN) | XP_024308864.1:p.Gly24473Ser | |
| XM_024453097.1:c.70759G>A (TTN) | XP_024308865.1:p.Gly23587Ser | |
| XM_024453098.1:c.70678G>A (TTN) | XP_024308866.1:p.Gly23560Ser | |
| XM_024453099.1:c.52441G>A (TTN) | XP_024308867.1:p.Gly17481Ser | |
| XM_024453100.1:c.42295G>A (TTN) | XP_024308868.1:p.Gly14099Ser |