Linked Data
ClinVar Variation Id:
202378
dbSNP Id:
rs794729265
gnomAD v3:
2-178612355-G-A
gnomAD v4:
2-178612355-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612355G>A , CM000664.2:g.178612355G>A | GRCh38 |
| NC_000002.11:g.179477082G>A , CM000664.1:g.179477082G>A | GRCh37 |
| NC_000002.10:g.179185327G>A | NCBI36 |
| NG_011618.3:g.223448C>T , LRG_391:g.223448C>T | |
| NG_051363.1:g.94529G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42466C>T (TTN) | ENSP00000343764.6:p.Arg14156Ter | |
| ENST00000342175.11:c.23551C>T (TTN) | ENSP00000340554.6:p.Arg7851Ter | |
| ENST00000359218.10:c.23350C>T (TTN) | ENSP00000352154.5:p.Arg7784Ter | |
| ENST00000342175.10:c.23551C>T (TTN) | ENSP00000340554.6:p.Arg7851Ter | |
| ENST00000342992.10:c.42466C>T (TTN) | ENSP00000343764.6:p.Arg14156Ter | |
| ENST00000359218.9:c.23350C>T (TTN) | ENSP00000352154.5:p.Arg7784Ter | |
| ENST00000460472.6:c.22975C>T (TTN) | ENSP00000434586.1:p.Arg7659Ter | |
| ENST00000589042.5:c.50170C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg16724Ter | |
| ENST00000591111.5:c.45247C>T (TTN) | ENSP00000465570.1:p.Arg15083Ter | |
| ENST00000615779.4:c.45247C>T (TTN) | ENSP00000483597.1:p.Arg15083Ter | |
| NM_001256850.1:c.45247C>T (TTN) | NP_001243779.1:p.Arg15083Ter | |
| NM_001267550.2:c.50170C>T (TTN) MANE Select | NP_001254479.2:p.Arg16724Ter | |
| NM_003319.4:c.22975C>T (TTN) | NP_003310.4:p.Arg7659Ter | |
| NM_133378.4:c.42466C>T (TTN) | NP_596869.4:p.Arg14156Ter | |
| NM_133432.3:c.23350C>T (TTN) | NP_597676.3:p.Arg7784Ter | |
| NM_133437.4:c.23551C>T (TTN) | NP_597681.4:p.Arg7851Ter | |
| NR_038271.1:n.783-1680G>A (TTN-AS1) | ||
| XM_011511729.1:c.49267C>T (TTN) | XP_011510031.1:p.Arg16423Ter | |
| XM_011511730.1:c.23161C>T (TTN) | XP_011510032.1:p.Arg7721Ter | |
| XM_011511731.1:c.23020C>T (TTN) | XP_011510033.1:p.Arg7674Ter | |
| XM_017004819.1:c.49063C>T (TTN) | XP_016860308.1:p.Arg16355Ter | |
| XM_017004820.1:c.44461C>T (TTN) | XP_016860309.1:p.Arg14821Ter | |
| XM_017004821.1:c.44458C>T (TTN) | XP_016860310.1:p.Arg14820Ter | |
| XM_017004822.1:c.41500C>T (TTN) | XP_016860311.1:p.Arg13834Ter | |
| XM_017004823.1:c.23116C>T (TTN) | XP_016860312.1:p.Arg7706Ter | |
| XM_024453094.1:c.44611C>T (TTN) | XP_024308862.1:p.Arg14871Ter | |
| XM_024453095.1:c.44608C>T (TTN) | XP_024308863.1:p.Arg14870Ter | |
| XM_024453096.1:c.44041C>T (TTN) | XP_024308864.1:p.Arg14681Ter | |
| XM_024453097.1:c.41383C>T (TTN) | XP_024308865.1:p.Arg13795Ter | |
| XM_024453098.1:c.41302C>T (TTN) | XP_024308866.1:p.Arg13768Ter | |
| XM_024453099.1:c.23065C>T (TTN) | XP_024308867.1:p.Arg7689Ter | |
| XM_024453100.1:c.12919C>T (TTN) | XP_024308868.1:p.Arg4307Ter |