Linked Data
ClinVar Variation Id:
192146
dbSNP Id:
rs374147064
ExAC:
2:179419341 C / T
gnomAD v2:
2-179419341-C-T
gnomAD v3:
2-178554614-C-T
gnomAD v4:
2-178554614-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178554614C>T , CM000664.2:g.178554614C>T | GRCh38 |
| NC_000002.11:g.179419341C>T , CM000664.1:g.179419341C>T | GRCh37 |
| NC_000002.10:g.179127587C>T | NCBI36 |
| NG_011618.3:g.281189G>A , LRG_391:g.281189G>A | |
| NG_051363.1:g.36788C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81029G>A (TTN) | ENSP00000343764.6:p.Arg27010His | |
| ENST00000342175.11:c.62114G>A (TTN) | ENSP00000340554.6:p.Arg20705His | |
| ENST00000359218.10:c.61913G>A (TTN) | ENSP00000352154.5:p.Arg20638His | |
| ENST00000342175.10:c.62114G>A (TTN) | ENSP00000340554.6:p.Arg20705His | |
| ENST00000342992.10:c.81029G>A (TTN) | ENSP00000343764.6:p.Arg27010His | |
| ENST00000359218.9:c.61913G>A (TTN) | ENSP00000352154.5:p.Arg20638His | |
| ENST00000460472.6:c.61538G>A (TTN) | ENSP00000434586.1:p.Arg20513His | |
| ENST00000589042.5:c.88733G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg29578His | |
| ENST00000591111.5:c.83810G>A (TTN) | ENSP00000465570.1:p.Arg27937His | |
| ENST00000615779.4:c.83810G>A (TTN) | ENSP00000483597.1:p.Arg27937His | |
| NM_001256850.1:c.83810G>A (TTN) | NP_001243779.1:p.Arg27937His | |
| NM_001267550.2:c.88733G>A (TTN) MANE Select | NP_001254479.2:p.Arg29578His | |
| NM_003319.4:c.61538G>A (TTN) | NP_003310.4:p.Arg20513His | |
| NM_133378.4:c.81029G>A (TTN) | NP_596869.4:p.Arg27010His | |
| NM_133432.3:c.61913G>A (TTN) | NP_597676.3:p.Arg20638His | |
| NM_133437.4:c.62114G>A (TTN) | NP_597681.4:p.Arg20705His | |
| NR_038271.1:n.447-16686C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+12253C>T (TTN-AS1) | ||
| XM_011511729.1:c.87830G>A (TTN) | XP_011510031.1:p.Arg29277His | |
| XM_011511730.1:c.61724G>A (TTN) | XP_011510032.1:p.Arg20575His | |
| XM_011511731.1:c.61583G>A (TTN) | XP_011510033.1:p.Arg20528His | |
| XM_017004819.1:c.87626G>A (TTN) | XP_016860308.1:p.Arg29209His | |
| XM_017004820.1:c.83024G>A (TTN) | XP_016860309.1:p.Arg27675His | |
| XM_017004821.1:c.83021G>A (TTN) | XP_016860310.1:p.Arg27674His | |
| XM_017004822.1:c.80063G>A (TTN) | XP_016860311.1:p.Arg26688His | |
| XM_017004823.1:c.61679G>A (TTN) | XP_016860312.1:p.Arg20560His | |
| XM_024453094.1:c.83174G>A (TTN) | XP_024308862.1:p.Arg27725His | |
| XM_024453095.1:c.83171G>A (TTN) | XP_024308863.1:p.Arg27724His | |
| XM_024453096.1:c.82604G>A (TTN) | XP_024308864.1:p.Arg27535His | |
| XM_024453097.1:c.79946G>A (TTN) | XP_024308865.1:p.Arg26649His | |
| XM_024453098.1:c.79865G>A (TTN) | XP_024308866.1:p.Arg26622His | |
| XM_024453099.1:c.61628G>A (TTN) | XP_024308867.1:p.Arg20543His | |
| XM_024453100.1:c.51482G>A (TTN) | XP_024308868.1:p.Arg17161His |