Linked Data
ClinVar Variation Id:
202847
dbSNP Id:
rs200028088
ExAC:
2:179437556 G / A
gnomAD v2:
2-179437556-G-A
gnomAD v3:
2-178572829-G-A
gnomAD v4:
2-178572829-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572829G>A , CM000664.2:g.178572829G>A | GRCh38 |
| NC_000002.11:g.179437556G>A , CM000664.1:g.179437556G>A | GRCh37 |
| NC_000002.10:g.179145802G>A | NCBI36 |
| NG_011618.3:g.262974C>T , LRG_391:g.262974C>T | |
| NG_051363.1:g.55003G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65599C>T (TTN) | ENSP00000343764.6:p.Arg21867Cys | |
| ENST00000342175.11:c.46684C>T (TTN) | ENSP00000340554.6:p.Arg15562Cys | |
| ENST00000359218.10:c.46483C>T (TTN) | ENSP00000352154.5:p.Arg15495Cys | |
| ENST00000342175.10:c.46684C>T (TTN) | ENSP00000340554.6:p.Arg15562Cys | |
| ENST00000342992.10:c.65599C>T (TTN) | ENSP00000343764.6:p.Arg21867Cys | |
| ENST00000359218.9:c.46483C>T (TTN) | ENSP00000352154.5:p.Arg15495Cys | |
| ENST00000460472.6:c.46108C>T (TTN) | ENSP00000434586.1:p.Arg15370Cys | |
| ENST00000589042.5:c.73303C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg24435Cys | |
| ENST00000591111.5:c.68380C>T (TTN) | ENSP00000465570.1:p.Arg22794Cys | |
| ENST00000615779.4:c.68380C>T (TTN) | ENSP00000483597.1:p.Arg22794Cys | |
| NM_001256850.1:c.68380C>T (TTN) | NP_001243779.1:p.Arg22794Cys | |
| NM_001267550.2:c.73303C>T (TTN) MANE Select | NP_001254479.2:p.Arg24435Cys | |
| NM_003319.4:c.46108C>T (TTN) | NP_003310.4:p.Arg15370Cys | |
| NM_133378.4:c.65599C>T (TTN) | NP_596869.4:p.Arg21867Cys | |
| NM_133432.3:c.46483C>T (TTN) | NP_597676.3:p.Arg15495Cys | |
| NM_133437.4:c.46684C>T (TTN) | NP_597681.4:p.Arg15562Cys | |
| NR_038271.1:n.596+1380G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-9743G>A (TTN-AS1) | ||
| XM_011511729.1:c.72400C>T (TTN) | XP_011510031.1:p.Arg24134Cys | |
| XM_011511730.1:c.46294C>T (TTN) | XP_011510032.1:p.Arg15432Cys | |
| XM_011511731.1:c.46153C>T (TTN) | XP_011510033.1:p.Arg15385Cys | |
| XM_017004819.1:c.72196C>T (TTN) | XP_016860308.1:p.Arg24066Cys | |
| XM_017004820.1:c.67594C>T (TTN) | XP_016860309.1:p.Arg22532Cys | |
| XM_017004821.1:c.67591C>T (TTN) | XP_016860310.1:p.Arg22531Cys | |
| XM_017004822.1:c.64633C>T (TTN) | XP_016860311.1:p.Arg21545Cys | |
| XM_017004823.1:c.46249C>T (TTN) | XP_016860312.1:p.Arg15417Cys | |
| XM_024453094.1:c.67744C>T (TTN) | XP_024308862.1:p.Arg22582Cys | |
| XM_024453095.1:c.67741C>T (TTN) | XP_024308863.1:p.Arg22581Cys | |
| XM_024453096.1:c.67174C>T (TTN) | XP_024308864.1:p.Arg22392Cys | |
| XM_024453097.1:c.64516C>T (TTN) | XP_024308865.1:p.Arg21506Cys | |
| XM_024453098.1:c.64435C>T (TTN) | XP_024308866.1:p.Arg21479Cys | |
| XM_024453099.1:c.46198C>T (TTN) | XP_024308867.1:p.Arg15400Cys | |
| XM_024453100.1:c.36052C>T (TTN) | XP_024308868.1:p.Arg12018Cys |