Linked Data
ClinVar Variation Id:
535153
dbSNP Id:
rs145437410
ExAC:
2:179434790 G / A
gnomAD v2:
2-179434790-G-A
gnomAD v3:
2-178570063-G-A
gnomAD v4:
2-178570063-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570063G>A , CM000664.2:g.178570063G>A | GRCh38 |
| NC_000002.11:g.179434790G>A , CM000664.1:g.179434790G>A | GRCh37 |
| NC_000002.10:g.179143036G>A | NCBI36 |
| NG_011618.3:g.265740C>T , LRG_391:g.265740C>T | |
| NG_051363.1:g.52237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68365C>T (TTN) | ENSP00000343764.6:p.Arg22789Cys | |
| ENST00000342175.11:c.49450C>T (TTN) | ENSP00000340554.6:p.Arg16484Cys | |
| ENST00000359218.10:c.49249C>T (TTN) | ENSP00000352154.5:p.Arg16417Cys | |
| ENST00000342175.10:c.49450C>T (TTN) | ENSP00000340554.6:p.Arg16484Cys | |
| ENST00000342992.10:c.68365C>T (TTN) | ENSP00000343764.6:p.Arg22789Cys | |
| ENST00000359218.9:c.49249C>T (TTN) | ENSP00000352154.5:p.Arg16417Cys | |
| ENST00000460472.6:c.48874C>T (TTN) | ENSP00000434586.1:p.Arg16292Cys | |
| ENST00000589042.5:c.76069C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg25357Cys | |
| ENST00000591111.5:c.71146C>T (TTN) | ENSP00000465570.1:p.Arg23716Cys | |
| ENST00000615779.4:c.71146C>T (TTN) | ENSP00000483597.1:p.Arg23716Cys | |
| NM_001256850.1:c.71146C>T (TTN) | NP_001243779.1:p.Arg23716Cys | |
| NM_001267550.2:c.76069C>T (TTN) MANE Select | NP_001254479.2:p.Arg25357Cys | |
| NM_003319.4:c.48874C>T (TTN) | NP_003310.4:p.Arg16292Cys | |
| NM_133378.4:c.68365C>T (TTN) | NP_596869.4:p.Arg22789Cys | |
| NM_133432.3:c.49249C>T (TTN) | NP_597676.3:p.Arg16417Cys | |
| NM_133437.4:c.49450C>T (TTN) | NP_597681.4:p.Arg16484Cys | |
| NR_038271.1:n.447-1237G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12509G>A (TTN-AS1) | ||
| XM_011511729.1:c.75166C>T (TTN) | XP_011510031.1:p.Arg25056Cys | |
| XM_011511730.1:c.49060C>T (TTN) | XP_011510032.1:p.Arg16354Cys | |
| XM_011511731.1:c.48919C>T (TTN) | XP_011510033.1:p.Arg16307Cys | |
| XM_017004819.1:c.74962C>T (TTN) | XP_016860308.1:p.Arg24988Cys | |
| XM_017004820.1:c.70360C>T (TTN) | XP_016860309.1:p.Arg23454Cys | |
| XM_017004821.1:c.70357C>T (TTN) | XP_016860310.1:p.Arg23453Cys | |
| XM_017004822.1:c.67399C>T (TTN) | XP_016860311.1:p.Arg22467Cys | |
| XM_017004823.1:c.49015C>T (TTN) | XP_016860312.1:p.Arg16339Cys | |
| XM_024453094.1:c.70510C>T (TTN) | XP_024308862.1:p.Arg23504Cys | |
| XM_024453095.1:c.70507C>T (TTN) | XP_024308863.1:p.Arg23503Cys | |
| XM_024453096.1:c.69940C>T (TTN) | XP_024308864.1:p.Arg23314Cys | |
| XM_024453097.1:c.67282C>T (TTN) | XP_024308865.1:p.Arg22428Cys | |
| XM_024453098.1:c.67201C>T (TTN) | XP_024308866.1:p.Arg22401Cys | |
| XM_024453099.1:c.48964C>T (TTN) | XP_024308867.1:p.Arg16322Cys | |
| XM_024453100.1:c.38818C>T (TTN) | XP_024308868.1:p.Arg12940Cys |