Linked Data
ClinVar Variation Id:
191930
ClinVar RCV Id:
RCV000172296
RCV000220034
RCV000283208
RCV000297539
RCV000401451
RCV000341926
RCV000400629
RCV000558110
RCV002453600
RCV004535172
dbSNP Id:
rs373062007
ExAC:
2:179455520 C / T
gnomAD v2:
2-179455520-C-T
gnomAD v3:
2-178590793-C-T
gnomAD v4:
2-178590793-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178590793C>T , CM000664.2:g.178590793C>T | GRCh38 |
| NC_000002.11:g.179455520C>T , CM000664.1:g.179455520C>T | GRCh37 |
| NC_000002.10:g.179163766C>T | NCBI36 |
| NG_011618.3:g.245010G>A , LRG_391:g.245010G>A | |
| NG_051363.1:g.72967C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.53228G>A (TTN) | ENSP00000343764.6:p.Arg17743Gln | |
| ENST00000342175.11:c.34313G>A (TTN) | ENSP00000340554.6:p.Arg11438Gln | |
| ENST00000359218.10:c.34112G>A (TTN) | ENSP00000352154.5:p.Arg11371Gln | |
| ENST00000342175.10:c.34313G>A (TTN) | ENSP00000340554.6:p.Arg11438Gln | |
| ENST00000342992.10:c.53228G>A (TTN) | ENSP00000343764.6:p.Arg17743Gln | |
| ENST00000359218.9:c.34112G>A (TTN) | ENSP00000352154.5:p.Arg11371Gln | |
| ENST00000460472.6:c.33737G>A (TTN) | ENSP00000434586.1:p.Arg11246Gln | |
| ENST00000589042.5:c.60932G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg20311Gln | |
| ENST00000591111.5:c.56009G>A (TTN) | ENSP00000465570.1:p.Arg18670Gln | |
| ENST00000615779.4:c.56009G>A (TTN) | ENSP00000483597.1:p.Arg18670Gln | |
| NM_001256850.1:c.56009G>A (TTN) | NP_001243779.1:p.Arg18670Gln | |
| NM_001267550.2:c.60932G>A (TTN) MANE Select | NP_001254479.2:p.Arg20311Gln | |
| NM_003319.4:c.33737G>A (TTN) | NP_003310.4:p.Arg11246Gln | |
| NM_133378.4:c.53228G>A (TTN) | NP_596869.4:p.Arg17743Gln | |
| NM_133432.3:c.34112G>A (TTN) | NP_597676.3:p.Arg11371Gln | |
| NM_133437.4:c.34313G>A (TTN) | NP_597681.4:p.Arg11438Gln | |
| NR_038271.1:n.597-6803C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-346C>T (TTN-AS1) | ||
| XM_011511729.1:c.60029G>A (TTN) | XP_011510031.1:p.Arg20010Gln | |
| XM_011511730.1:c.33923G>A (TTN) | XP_011510032.1:p.Arg11308Gln | |
| XM_011511731.1:c.33782G>A (TTN) | XP_011510033.1:p.Arg11261Gln | |
| XM_017004819.1:c.59825G>A (TTN) | XP_016860308.1:p.Arg19942Gln | |
| XM_017004820.1:c.55223G>A (TTN) | XP_016860309.1:p.Arg18408Gln | |
| XM_017004821.1:c.55220G>A (TTN) | XP_016860310.1:p.Arg18407Gln | |
| XM_017004822.1:c.52262G>A (TTN) | XP_016860311.1:p.Arg17421Gln | |
| XM_017004823.1:c.33878G>A (TTN) | XP_016860312.1:p.Arg11293Gln | |
| XM_024453094.1:c.55373G>A (TTN) | XP_024308862.1:p.Arg18458Gln | |
| XM_024453095.1:c.55370G>A (TTN) | XP_024308863.1:p.Arg18457Gln | |
| XM_024453096.1:c.54803G>A (TTN) | XP_024308864.1:p.Arg18268Gln | |
| XM_024453097.1:c.52145G>A (TTN) | XP_024308865.1:p.Arg17382Gln | |
| XM_024453098.1:c.52064G>A (TTN) | XP_024308866.1:p.Arg17355Gln | |
| XM_024453099.1:c.33827G>A (TTN) | XP_024308867.1:p.Arg11276Gln | |
| XM_024453100.1:c.23681G>A (TTN) | XP_024308868.1:p.Arg7894Gln |