Linked Data
dbSNP Id:
rs559521606
ExAC:
2:179435270 C / T
gnomAD v2:
2-179435270-C-T
gnomAD v3:
2-178570543-C-T
gnomAD v4:
2-178570543-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570543C>T , CM000664.2:g.178570543C>T | GRCh38 |
| NC_000002.11:g.179435270C>T , CM000664.1:g.179435270C>T | GRCh37 |
| NC_000002.10:g.179143516C>T | NCBI36 |
| NG_011618.3:g.265260G>A , LRG_391:g.265260G>A | |
| NG_051363.1:g.52717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67885G>A (TTN) | ENSP00000343764.6:p.Val22629Met | |
| ENST00000342175.11:c.48970G>A (TTN) | ENSP00000340554.6:p.Val16324Met | |
| ENST00000359218.10:c.48769G>A (TTN) | ENSP00000352154.5:p.Val16257Met | |
| ENST00000342175.10:c.48970G>A (TTN) | ENSP00000340554.6:p.Val16324Met | |
| ENST00000342992.10:c.67885G>A (TTN) | ENSP00000343764.6:p.Val22629Met | |
| ENST00000359218.9:c.48769G>A (TTN) | ENSP00000352154.5:p.Val16257Met | |
| ENST00000460472.6:c.48394G>A (TTN) | ENSP00000434586.1:p.Val16132Met | |
| ENST00000589042.5:c.75589G>A (TTN) MANE Select | ENSP00000467141.1:p.Val25197Met | |
| ENST00000591111.5:c.70666G>A (TTN) | ENSP00000465570.1:p.Val23556Met | |
| ENST00000615779.4:c.70666G>A (TTN) | ENSP00000483597.1:p.Val23556Met | |
| NM_001256850.1:c.70666G>A (TTN) | NP_001243779.1:p.Val23556Met | |
| NM_001267550.2:c.75589G>A (TTN) MANE Select | NP_001254479.2:p.Val25197Met | |
| NM_003319.4:c.48394G>A (TTN) | NP_003310.4:p.Val16132Met | |
| NM_133378.4:c.67885G>A (TTN) | NP_596869.4:p.Val22629Met | |
| NM_133432.3:c.48769G>A (TTN) | NP_597676.3:p.Val16257Met | |
| NM_133437.4:c.48970G>A (TTN) | NP_597681.4:p.Val16324Met | |
| NR_038271.1:n.447-757C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-12029C>T (TTN-AS1) | ||
| XM_011511729.1:c.74686G>A (TTN) | XP_011510031.1:p.Val24896Met | |
| XM_011511730.1:c.48580G>A (TTN) | XP_011510032.1:p.Val16194Met | |
| XM_011511731.1:c.48439G>A (TTN) | XP_011510033.1:p.Val16147Met | |
| XM_017004819.1:c.74482G>A (TTN) | XP_016860308.1:p.Val24828Met | |
| XM_017004820.1:c.69880G>A (TTN) | XP_016860309.1:p.Val23294Met | |
| XM_017004821.1:c.69877G>A (TTN) | XP_016860310.1:p.Val23293Met | |
| XM_017004822.1:c.66919G>A (TTN) | XP_016860311.1:p.Val22307Met | |
| XM_017004823.1:c.48535G>A (TTN) | XP_016860312.1:p.Val16179Met | |
| XM_024453094.1:c.70030G>A (TTN) | XP_024308862.1:p.Val23344Met | |
| XM_024453095.1:c.70027G>A (TTN) | XP_024308863.1:p.Val23343Met | |
| XM_024453096.1:c.69460G>A (TTN) | XP_024308864.1:p.Val23154Met | |
| XM_024453097.1:c.66802G>A (TTN) | XP_024308865.1:p.Val22268Met | |
| XM_024453098.1:c.66721G>A (TTN) | XP_024308866.1:p.Val22241Met | |
| XM_024453099.1:c.48484G>A (TTN) | XP_024308867.1:p.Val16162Met | |
| XM_024453100.1:c.38338G>A (TTN) | XP_024308868.1:p.Val12780Met |