Linked Data
ClinVar Variation Id:
196091
dbSNP Id:
rs181299250
ExAC:
2:179429736 C / T
gnomAD v2:
2-179429736-C-T
gnomAD v3:
2-178565009-C-T
gnomAD v4:
2-178565009-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565009C>T , CM000664.2:g.178565009C>T | GRCh38 |
| NC_000002.11:g.179429736C>T , CM000664.1:g.179429736C>T | GRCh37 |
| NC_000002.10:g.179137982C>T | NCBI36 |
| NG_011618.3:g.270794G>A , LRG_391:g.270794G>A | |
| NG_051363.1:g.47183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73419G>A (TTN) | ENSP00000343764.6:p.Thr24473= | |
| ENST00000342175.11:c.54504G>A (TTN) | ENSP00000340554.6:p.Thr18168= | |
| ENST00000359218.10:c.54303G>A (TTN) | ENSP00000352154.5:p.Thr18101= | |
| ENST00000342175.10:c.54504G>A (TTN) | ENSP00000340554.6:p.Thr18168= | |
| ENST00000342992.10:c.73419G>A (TTN) | ENSP00000343764.6:p.Thr24473= | |
| ENST00000359218.9:c.54303G>A (TTN) | ENSP00000352154.5:p.Thr18101= | |
| ENST00000460472.6:c.53928G>A (TTN) | ENSP00000434586.1:p.Thr17976= | |
| ENST00000589042.5:c.81123G>A (TTN) MANE Select | ENSP00000467141.1:p.Thr27041= | |
| ENST00000591111.5:c.76200G>A (TTN) | ENSP00000465570.1:p.Thr25400= | |
| ENST00000615779.4:c.76200G>A (TTN) | ENSP00000483597.1:p.Thr25400= | |
| NM_001256850.1:c.76200G>A (TTN) | NP_001243779.1:p.Thr25400= | |
| NM_001267550.2:c.81123G>A (TTN) MANE Select | NP_001254479.2:p.Thr27041= | |
| NM_003319.4:c.53928G>A (TTN) | NP_003310.4:p.Thr17976= | |
| NM_133378.4:c.73419G>A (TTN) | NP_596869.4:p.Thr24473= | |
| NM_133432.3:c.54303G>A (TTN) | NP_597676.3:p.Thr18101= | |
| NM_133437.4:c.54504G>A (TTN) | NP_597681.4:p.Thr18168= | |
| NR_038271.1:n.447-6291C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-17563C>T (TTN-AS1) | ||
| XM_011511729.1:c.80220G>A (TTN) | XP_011510031.1:p.Thr26740= | |
| XM_011511730.1:c.54114G>A (TTN) | XP_011510032.1:p.Thr18038= | |
| XM_011511731.1:c.53973G>A (TTN) | XP_011510033.1:p.Thr17991= | |
| XM_017004819.1:c.80016G>A (TTN) | XP_016860308.1:p.Thr26672= | |
| XM_017004820.1:c.75414G>A (TTN) | XP_016860309.1:p.Thr25138= | |
| XM_017004821.1:c.75411G>A (TTN) | XP_016860310.1:p.Thr25137= | |
| XM_017004822.1:c.72453G>A (TTN) | XP_016860311.1:p.Thr24151= | |
| XM_017004823.1:c.54069G>A (TTN) | XP_016860312.1:p.Thr18023= | |
| XM_024453094.1:c.75564G>A (TTN) | XP_024308862.1:p.Thr25188= | |
| XM_024453095.1:c.75561G>A (TTN) | XP_024308863.1:p.Thr25187= | |
| XM_024453096.1:c.74994G>A (TTN) | XP_024308864.1:p.Thr24998= | |
| XM_024453097.1:c.72336G>A (TTN) | XP_024308865.1:p.Thr24112= | |
| XM_024453098.1:c.72255G>A (TTN) | XP_024308866.1:p.Thr24085= | |
| XM_024453099.1:c.54018G>A (TTN) | XP_024308867.1:p.Thr18006= | |
| XM_024453100.1:c.43872G>A (TTN) | XP_024308868.1:p.Thr14624= |