Linked Data
ClinVar Variation Id:
404661
dbSNP Id:
rs181166140
ExAC:
2:179434214 C / T
gnomAD v2:
2-179434214-C-T
gnomAD v3:
2-178569487-C-T
gnomAD v4:
2-178569487-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569487C>T , CM000664.2:g.178569487C>T | GRCh38 |
| NC_000002.11:g.179434214C>T , CM000664.1:g.179434214C>T | GRCh37 |
| NC_000002.10:g.179142460C>T | NCBI36 |
| NG_011618.3:g.266316G>A , LRG_391:g.266316G>A | |
| NG_051363.1:g.51661C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68941G>A (TTN) | ENSP00000343764.6:p.Gly22981Ser | |
| ENST00000342175.11:c.50026G>A (TTN) | ENSP00000340554.6:p.Gly16676Ser | |
| ENST00000359218.10:c.49825G>A (TTN) | ENSP00000352154.5:p.Gly16609Ser | |
| ENST00000342175.10:c.50026G>A (TTN) | ENSP00000340554.6:p.Gly16676Ser | |
| ENST00000342992.10:c.68941G>A (TTN) | ENSP00000343764.6:p.Gly22981Ser | |
| ENST00000359218.9:c.49825G>A (TTN) | ENSP00000352154.5:p.Gly16609Ser | |
| ENST00000460472.6:c.49450G>A (TTN) | ENSP00000434586.1:p.Gly16484Ser | |
| ENST00000589042.5:c.76645G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly25549Ser | |
| ENST00000591111.5:c.71722G>A (TTN) | ENSP00000465570.1:p.Gly23908Ser | |
| ENST00000615779.4:c.71722G>A (TTN) | ENSP00000483597.1:p.Gly23908Ser | |
| NM_001256850.1:c.71722G>A (TTN) | NP_001243779.1:p.Gly23908Ser | |
| NM_001267550.2:c.76645G>A (TTN) MANE Select | NP_001254479.2:p.Gly25549Ser | |
| NM_003319.4:c.49450G>A (TTN) | NP_003310.4:p.Gly16484Ser | |
| NM_133378.4:c.68941G>A (TTN) | NP_596869.4:p.Gly22981Ser | |
| NM_133432.3:c.49825G>A (TTN) | NP_597676.3:p.Gly16609Ser | |
| NM_133437.4:c.50026G>A (TTN) | NP_597681.4:p.Gly16676Ser | |
| NR_038271.1:n.447-1813C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-13085C>T (TTN-AS1) | ||
| XM_011511729.1:c.75742G>A (TTN) | XP_011510031.1:p.Gly25248Ser | |
| XM_011511730.1:c.49636G>A (TTN) | XP_011510032.1:p.Gly16546Ser | |
| XM_011511731.1:c.49495G>A (TTN) | XP_011510033.1:p.Gly16499Ser | |
| XM_017004819.1:c.75538G>A (TTN) | XP_016860308.1:p.Gly25180Ser | |
| XM_017004820.1:c.70936G>A (TTN) | XP_016860309.1:p.Gly23646Ser | |
| XM_017004821.1:c.70933G>A (TTN) | XP_016860310.1:p.Gly23645Ser | |
| XM_017004822.1:c.67975G>A (TTN) | XP_016860311.1:p.Gly22659Ser | |
| XM_017004823.1:c.49591G>A (TTN) | XP_016860312.1:p.Gly16531Ser | |
| XM_024453094.1:c.71086G>A (TTN) | XP_024308862.1:p.Gly23696Ser | |
| XM_024453095.1:c.71083G>A (TTN) | XP_024308863.1:p.Gly23695Ser | |
| XM_024453096.1:c.70516G>A (TTN) | XP_024308864.1:p.Gly23506Ser | |
| XM_024453097.1:c.67858G>A (TTN) | XP_024308865.1:p.Gly22620Ser | |
| XM_024453098.1:c.67777G>A (TTN) | XP_024308866.1:p.Gly22593Ser | |
| XM_024453099.1:c.49540G>A (TTN) | XP_024308867.1:p.Gly16514Ser | |
| XM_024453100.1:c.39394G>A (TTN) | XP_024308868.1:p.Gly13132Ser |