Linked Data
ClinVar Variation Id:
47168
ClinVar RCV Id:
RCV000040438
RCV000233759
RCV000242716
RCV000768968
RCV001136053
RCV001136054
RCV001136055
RCV001136056
RCV001136057
RCV001082822
RCV004534914
dbSNP Id:
rs141973925
ExAC:
2:179455352 C / T
gnomAD v2:
2-179455352-C-T
gnomAD v3:
2-178590625-C-T
gnomAD v4:
2-178590625-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590625C>T , CM000664.2:g.178590625C>T | GRCh38 |
| NC_000002.11:g.179455352C>T , CM000664.1:g.179455352C>T | GRCh37 |
| NC_000002.10:g.179163598C>T | NCBI36 |
| NG_011618.3:g.245178G>A , LRG_391:g.245178G>A | |
| NG_051363.1:g.72799C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53396G>A (TTN) | ENSP00000343764.6:p.Arg17799Gln | |
| ENST00000342175.11:c.34481G>A (TTN) | ENSP00000340554.6:p.Arg11494Gln | |
| ENST00000359218.10:c.34280G>A (TTN) | ENSP00000352154.5:p.Arg11427Gln | |
| ENST00000342175.10:c.34481G>A (TTN) | ENSP00000340554.6:p.Arg11494Gln | |
| ENST00000342992.10:c.53396G>A (TTN) | ENSP00000343764.6:p.Arg17799Gln | |
| ENST00000359218.9:c.34280G>A (TTN) | ENSP00000352154.5:p.Arg11427Gln | |
| ENST00000460472.6:c.33905G>A (TTN) | ENSP00000434586.1:p.Arg11302Gln | |
| ENST00000589042.5:c.61100G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg20367Gln | |
| ENST00000591111.5:c.56177G>A (TTN) | ENSP00000465570.1:p.Arg18726Gln | |
| ENST00000615779.4:c.56177G>A (TTN) | ENSP00000483597.1:p.Arg18726Gln | |
| NM_001256850.1:c.56177G>A (TTN) | NP_001243779.1:p.Arg18726Gln | |
| NM_001267550.2:c.61100G>A (TTN) MANE Select | NP_001254479.2:p.Arg20367Gln | |
| NM_003319.4:c.33905G>A (TTN) | NP_003310.4:p.Arg11302Gln | |
| NM_133378.4:c.53396G>A (TTN) | NP_596869.4:p.Arg17799Gln | |
| NM_133432.3:c.34280G>A (TTN) | NP_597676.3:p.Arg11427Gln | |
| NM_133437.4:c.34481G>A (TTN) | NP_597681.4:p.Arg11494Gln | |
| NR_038271.1:n.597-6971C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-514C>T (TTN-AS1) | ||
| XM_011511729.1:c.60197G>A (TTN) | XP_011510031.1:p.Arg20066Gln | |
| XM_011511730.1:c.34091G>A (TTN) | XP_011510032.1:p.Arg11364Gln | |
| XM_011511731.1:c.33950G>A (TTN) | XP_011510033.1:p.Arg11317Gln | |
| XM_017004819.1:c.59993G>A (TTN) | XP_016860308.1:p.Arg19998Gln | |
| XM_017004820.1:c.55391G>A (TTN) | XP_016860309.1:p.Arg18464Gln | |
| XM_017004821.1:c.55388G>A (TTN) | XP_016860310.1:p.Arg18463Gln | |
| XM_017004822.1:c.52430G>A (TTN) | XP_016860311.1:p.Arg17477Gln | |
| XM_017004823.1:c.34046G>A (TTN) | XP_016860312.1:p.Arg11349Gln | |
| XM_024453094.1:c.55541G>A (TTN) | XP_024308862.1:p.Arg18514Gln | |
| XM_024453095.1:c.55538G>A (TTN) | XP_024308863.1:p.Arg18513Gln | |
| XM_024453096.1:c.54971G>A (TTN) | XP_024308864.1:p.Arg18324Gln | |
| XM_024453097.1:c.52313G>A (TTN) | XP_024308865.1:p.Arg17438Gln | |
| XM_024453098.1:c.52232G>A (TTN) | XP_024308866.1:p.Arg17411Gln | |
| XM_024453099.1:c.33995G>A (TTN) | XP_024308867.1:p.Arg11332Gln | |
| XM_024453100.1:c.23849G>A (TTN) | XP_024308868.1:p.Arg7950Gln |