Linked Data
ClinVar Variation Id:
467519
dbSNP Id:
rs778729064
ExAC:
2:179431754 C / T
gnomAD v2:
2-179431754-C-T
gnomAD v3:
2-178567027-C-T
gnomAD v4:
2-178567027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567027C>T , CM000664.2:g.178567027C>T | GRCh38 |
| NC_000002.11:g.179431754C>T , CM000664.1:g.179431754C>T | GRCh37 |
| NC_000002.10:g.179140000C>T | NCBI36 |
| NG_011618.3:g.268776G>A , LRG_391:g.268776G>A | |
| NG_051363.1:g.49201C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.71401G>A (TTN) | ENSP00000343764.6:p.Val23801Ile | |
| ENST00000342175.11:c.52486G>A (TTN) | ENSP00000340554.6:p.Val17496Ile | |
| ENST00000359218.10:c.52285G>A (TTN) | ENSP00000352154.5:p.Val17429Ile | |
| ENST00000342175.10:c.52486G>A (TTN) | ENSP00000340554.6:p.Val17496Ile | |
| ENST00000342992.10:c.71401G>A (TTN) | ENSP00000343764.6:p.Val23801Ile | |
| ENST00000359218.9:c.52285G>A (TTN) | ENSP00000352154.5:p.Val17429Ile | |
| ENST00000460472.6:c.51910G>A (TTN) | ENSP00000434586.1:p.Val17304Ile | |
| ENST00000589042.5:c.79105G>A (TTN) MANE Select | ENSP00000467141.1:p.Val26369Ile | |
| ENST00000591111.5:c.74182G>A (TTN) | ENSP00000465570.1:p.Val24728Ile | |
| ENST00000615779.4:c.74182G>A (TTN) | ENSP00000483597.1:p.Val24728Ile | |
| NM_001256850.1:c.74182G>A (TTN) | NP_001243779.1:p.Val24728Ile | |
| NM_001267550.2:c.79105G>A (TTN) MANE Select | NP_001254479.2:p.Val26369Ile | |
| NM_003319.4:c.51910G>A (TTN) | NP_003310.4:p.Val17304Ile | |
| NM_133378.4:c.71401G>A (TTN) | NP_596869.4:p.Val23801Ile | |
| NM_133432.3:c.52285G>A (TTN) | NP_597676.3:p.Val17429Ile | |
| NM_133437.4:c.52486G>A (TTN) | NP_597681.4:p.Val17496Ile | |
| NR_038271.1:n.447-4273C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-15545C>T (TTN-AS1) | ||
| XM_011511729.1:c.78202G>A (TTN) | XP_011510031.1:p.Val26068Ile | |
| XM_011511730.1:c.52096G>A (TTN) | XP_011510032.1:p.Val17366Ile | |
| XM_011511731.1:c.51955G>A (TTN) | XP_011510033.1:p.Val17319Ile | |
| XM_017004819.1:c.77998G>A (TTN) | XP_016860308.1:p.Val26000Ile | |
| XM_017004820.1:c.73396G>A (TTN) | XP_016860309.1:p.Val24466Ile | |
| XM_017004821.1:c.73393G>A (TTN) | XP_016860310.1:p.Val24465Ile | |
| XM_017004822.1:c.70435G>A (TTN) | XP_016860311.1:p.Val23479Ile | |
| XM_017004823.1:c.52051G>A (TTN) | XP_016860312.1:p.Val17351Ile | |
| XM_024453094.1:c.73546G>A (TTN) | XP_024308862.1:p.Val24516Ile | |
| XM_024453095.1:c.73543G>A (TTN) | XP_024308863.1:p.Val24515Ile | |
| XM_024453096.1:c.72976G>A (TTN) | XP_024308864.1:p.Val24326Ile | |
| XM_024453097.1:c.70318G>A (TTN) | XP_024308865.1:p.Val23440Ile | |
| XM_024453098.1:c.70237G>A (TTN) | XP_024308866.1:p.Val23413Ile | |
| XM_024453099.1:c.52000G>A (TTN) | XP_024308867.1:p.Val17334Ile | |
| XM_024453100.1:c.41854G>A (TTN) | XP_024308868.1:p.Val13952Ile |