Linked Data
ClinVar Variation Id:
191876
ClinVar RCV Id:
RCV000172233
RCV000295809
RCV000328290
RCV000332094
RCV000372796
RCV000387397
RCV001086678
RCV002345590
dbSNP Id:
rs118079537
ExAC:
2:179428171 C / T
gnomAD v2:
2-179428171-C-T
gnomAD v3:
2-178563444-C-T
gnomAD v4:
2-178563444-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563444C>T , CM000664.2:g.178563444C>T | GRCh38 |
| NC_000002.11:g.179428171C>T , CM000664.1:g.179428171C>T | GRCh37 |
| NC_000002.10:g.179136417C>T | NCBI36 |
| NG_011618.3:g.272359G>A , LRG_391:g.272359G>A | |
| NG_051363.1:g.45618C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74984G>A (TTN) | ENSP00000343764.6:p.Arg24995His | |
| ENST00000342175.11:c.56069G>A (TTN) | ENSP00000340554.6:p.Arg18690His | |
| ENST00000359218.10:c.55868G>A (TTN) | ENSP00000352154.5:p.Arg18623His | |
| ENST00000342175.10:c.56069G>A (TTN) | ENSP00000340554.6:p.Arg18690His | |
| ENST00000342992.10:c.74984G>A (TTN) | ENSP00000343764.6:p.Arg24995His | |
| ENST00000359218.9:c.55868G>A (TTN) | ENSP00000352154.5:p.Arg18623His | |
| ENST00000460472.6:c.55493G>A (TTN) | ENSP00000434586.1:p.Arg18498His | |
| ENST00000589042.5:c.82688G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg27563His | |
| ENST00000591111.5:c.77765G>A (TTN) | ENSP00000465570.1:p.Arg25922His | |
| ENST00000615779.4:c.77765G>A (TTN) | ENSP00000483597.1:p.Arg25922His | |
| NM_001256850.1:c.77765G>A (TTN) | NP_001243779.1:p.Arg25922His | |
| NM_001267550.2:c.82688G>A (TTN) MANE Select | NP_001254479.2:p.Arg27563His | |
| NM_003319.4:c.55493G>A (TTN) | NP_003310.4:p.Arg18498His | |
| NM_133378.4:c.74984G>A (TTN) | NP_596869.4:p.Arg24995His | |
| NM_133432.3:c.55868G>A (TTN) | NP_597676.3:p.Arg18623His | |
| NM_133437.4:c.56069G>A (TTN) | NP_597681.4:p.Arg18690His | |
| NR_038271.1:n.447-7856C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19128C>T (TTN-AS1) | ||
| XM_011511729.1:c.81785G>A (TTN) | XP_011510031.1:p.Arg27262His | |
| XM_011511730.1:c.55679G>A (TTN) | XP_011510032.1:p.Arg18560His | |
| XM_011511731.1:c.55538G>A (TTN) | XP_011510033.1:p.Arg18513His | |
| XM_017004819.1:c.81581G>A (TTN) | XP_016860308.1:p.Arg27194His | |
| XM_017004820.1:c.76979G>A (TTN) | XP_016860309.1:p.Arg25660His | |
| XM_017004821.1:c.76976G>A (TTN) | XP_016860310.1:p.Arg25659His | |
| XM_017004822.1:c.74018G>A (TTN) | XP_016860311.1:p.Arg24673His | |
| XM_017004823.1:c.55634G>A (TTN) | XP_016860312.1:p.Arg18545His | |
| XM_024453094.1:c.77129G>A (TTN) | XP_024308862.1:p.Arg25710His | |
| XM_024453095.1:c.77126G>A (TTN) | XP_024308863.1:p.Arg25709His | |
| XM_024453096.1:c.76559G>A (TTN) | XP_024308864.1:p.Arg25520His | |
| XM_024453097.1:c.73901G>A (TTN) | XP_024308865.1:p.Arg24634His | |
| XM_024453098.1:c.73820G>A (TTN) | XP_024308866.1:p.Arg24607His | |
| XM_024453099.1:c.55583G>A (TTN) | XP_024308867.1:p.Arg18528His | |
| XM_024453100.1:c.45437G>A (TTN) | XP_024308868.1:p.Arg15146His |