Linked Data
ClinVar Variation Id:
191868
ClinVar RCV Id:
RCV000172220
RCV000230659
RCV001129498
RCV001129497
RCV001136483
RCV001136481
RCV001136482
RCV002354438
dbSNP Id:
rs371539720
ExAC:
2:179424205 C / T
gnomAD v2:
2-179424205-C-T
gnomAD v3:
2-178559478-C-T
gnomAD v4:
2-178559478-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559478C>T , CM000664.2:g.178559478C>T | GRCh38 |
| NC_000002.11:g.179424205C>T , CM000664.1:g.179424205C>T | GRCh37 |
| NC_000002.10:g.179132451C>T | NCBI36 |
| NG_011618.3:g.276325G>A , LRG_391:g.276325G>A | |
| NG_051363.1:g.41652C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78950G>A (TTN) | ENSP00000343764.6:p.Arg26317His | |
| ENST00000342175.11:c.60035G>A (TTN) | ENSP00000340554.6:p.Arg20012His | |
| ENST00000359218.10:c.59834G>A (TTN) | ENSP00000352154.5:p.Arg19945His | |
| ENST00000342175.10:c.60035G>A (TTN) | ENSP00000340554.6:p.Arg20012His | |
| ENST00000342992.10:c.78950G>A (TTN) | ENSP00000343764.6:p.Arg26317His | |
| ENST00000359218.9:c.59834G>A (TTN) | ENSP00000352154.5:p.Arg19945His | |
| ENST00000460472.6:c.59459G>A (TTN) | ENSP00000434586.1:p.Arg19820His | |
| ENST00000589042.5:c.86654G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28885His | |
| ENST00000591111.5:c.81731G>A (TTN) | ENSP00000465570.1:p.Arg27244His | |
| ENST00000615779.4:c.81731G>A (TTN) | ENSP00000483597.1:p.Arg27244His | |
| NM_001256850.1:c.81731G>A (TTN) | NP_001243779.1:p.Arg27244His | |
| NM_001267550.2:c.86654G>A (TTN) MANE Select | NP_001254479.2:p.Arg28885His | |
| NM_003319.4:c.59459G>A (TTN) | NP_003310.4:p.Arg19820His | |
| NM_133378.4:c.78950G>A (TTN) | NP_596869.4:p.Arg26317His | |
| NM_133432.3:c.59834G>A (TTN) | NP_597676.3:p.Arg19945His | |
| NM_133437.4:c.60035G>A (TTN) | NP_597681.4:p.Arg20012His | |
| NR_038271.1:n.447-11822C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+17117C>T (TTN-AS1) | ||
| XM_011511729.1:c.85751G>A (TTN) | XP_011510031.1:p.Arg28584His | |
| XM_011511730.1:c.59645G>A (TTN) | XP_011510032.1:p.Arg19882His | |
| XM_011511731.1:c.59504G>A (TTN) | XP_011510033.1:p.Arg19835His | |
| XM_017004819.1:c.85547G>A (TTN) | XP_016860308.1:p.Arg28516His | |
| XM_017004820.1:c.80945G>A (TTN) | XP_016860309.1:p.Arg26982His | |
| XM_017004821.1:c.80942G>A (TTN) | XP_016860310.1:p.Arg26981His | |
| XM_017004822.1:c.77984G>A (TTN) | XP_016860311.1:p.Arg25995His | |
| XM_017004823.1:c.59600G>A (TTN) | XP_016860312.1:p.Arg19867His | |
| XM_024453094.1:c.81095G>A (TTN) | XP_024308862.1:p.Arg27032His | |
| XM_024453095.1:c.81092G>A (TTN) | XP_024308863.1:p.Arg27031His | |
| XM_024453096.1:c.80525G>A (TTN) | XP_024308864.1:p.Arg26842His | |
| XM_024453097.1:c.77867G>A (TTN) | XP_024308865.1:p.Arg25956His | |
| XM_024453098.1:c.77786G>A (TTN) | XP_024308866.1:p.Arg25929His | |
| XM_024453099.1:c.59549G>A (TTN) | XP_024308867.1:p.Arg19850His | |
| XM_024453100.1:c.49403G>A (TTN) | XP_024308868.1:p.Arg16468His |