Linked Data
ClinVar Variation Id:
202913
dbSNP Id:
rs749852593
ExAC:
2:179428277 G / A
gnomAD v2:
2-179428277-G-A
gnomAD v3:
2-178563550-G-A
gnomAD v4:
2-178563550-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563550G>A , CM000664.2:g.178563550G>A | GRCh38 |
| NC_000002.11:g.179428277G>A , CM000664.1:g.179428277G>A | GRCh37 |
| NC_000002.10:g.179136523G>A | NCBI36 |
| NG_011618.3:g.272253C>T , LRG_391:g.272253C>T | |
| NG_051363.1:g.45724G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74878C>T (TTN) | ENSP00000343764.6:p.Arg24960Trp | |
| ENST00000342175.11:c.55963C>T (TTN) | ENSP00000340554.6:p.Arg18655Trp | |
| ENST00000359218.10:c.55762C>T (TTN) | ENSP00000352154.5:p.Arg18588Trp | |
| ENST00000342175.10:c.55963C>T (TTN) | ENSP00000340554.6:p.Arg18655Trp | |
| ENST00000342992.10:c.74878C>T (TTN) | ENSP00000343764.6:p.Arg24960Trp | |
| ENST00000359218.9:c.55762C>T (TTN) | ENSP00000352154.5:p.Arg18588Trp | |
| ENST00000460472.6:c.55387C>T (TTN) | ENSP00000434586.1:p.Arg18463Trp | |
| ENST00000589042.5:c.82582C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg27528Trp | |
| ENST00000591111.5:c.77659C>T (TTN) | ENSP00000465570.1:p.Arg25887Trp | |
| ENST00000615779.4:c.77659C>T (TTN) | ENSP00000483597.1:p.Arg25887Trp | |
| NM_001256850.1:c.77659C>T (TTN) | NP_001243779.1:p.Arg25887Trp | |
| NM_001267550.2:c.82582C>T (TTN) MANE Select | NP_001254479.2:p.Arg27528Trp | |
| NM_003319.4:c.55387C>T (TTN) | NP_003310.4:p.Arg18463Trp | |
| NM_133378.4:c.74878C>T (TTN) | NP_596869.4:p.Arg24960Trp | |
| NM_133432.3:c.55762C>T (TTN) | NP_597676.3:p.Arg18588Trp | |
| NM_133437.4:c.55963C>T (TTN) | NP_597681.4:p.Arg18655Trp | |
| NR_038271.1:n.447-7750G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-19022G>A (TTN-AS1) | ||
| XM_011511729.1:c.81679C>T (TTN) | XP_011510031.1:p.Arg27227Trp | |
| XM_011511730.1:c.55573C>T (TTN) | XP_011510032.1:p.Arg18525Trp | |
| XM_011511731.1:c.55432C>T (TTN) | XP_011510033.1:p.Arg18478Trp | |
| XM_017004819.1:c.81475C>T (TTN) | XP_016860308.1:p.Arg27159Trp | |
| XM_017004820.1:c.76873C>T (TTN) | XP_016860309.1:p.Arg25625Trp | |
| XM_017004821.1:c.76870C>T (TTN) | XP_016860310.1:p.Arg25624Trp | |
| XM_017004822.1:c.73912C>T (TTN) | XP_016860311.1:p.Arg24638Trp | |
| XM_017004823.1:c.55528C>T (TTN) | XP_016860312.1:p.Arg18510Trp | |
| XM_024453094.1:c.77023C>T (TTN) | XP_024308862.1:p.Arg25675Trp | |
| XM_024453095.1:c.77020C>T (TTN) | XP_024308863.1:p.Arg25674Trp | |
| XM_024453096.1:c.76453C>T (TTN) | XP_024308864.1:p.Arg25485Trp | |
| XM_024453097.1:c.73795C>T (TTN) | XP_024308865.1:p.Arg24599Trp | |
| XM_024453098.1:c.73714C>T (TTN) | XP_024308866.1:p.Arg24572Trp | |
| XM_024453099.1:c.55477C>T (TTN) | XP_024308867.1:p.Arg18493Trp | |
| XM_024453100.1:c.45331C>T (TTN) | XP_024308868.1:p.Arg15111Trp |