Linked Data
ClinVar Variation Id:
223315
dbSNP Id:
rs768345594
ExAC:
2:179450018 G / A
gnomAD v2:
2-179450018-G-A
gnomAD v4:
2-178585291-G-A
PubMed:
PMID:25589632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178585291G>A , CM000664.2:g.178585291G>A | GRCh38 |
| NC_000002.11:g.179450018G>A , CM000664.1:g.179450018G>A | GRCh37 |
| NC_000002.10:g.179158264G>A | NCBI36 |
| NG_011618.3:g.250512C>T , LRG_391:g.250512C>T | |
| NG_051363.1:g.67465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.56749C>T (TTN) | ENSP00000343764.6:p.Arg18917Ter | |
| ENST00000342175.11:c.37834C>T (TTN) | ENSP00000340554.6:p.Arg12612Ter | |
| ENST00000359218.10:c.37633C>T (TTN) | ENSP00000352154.5:p.Arg12545Ter | |
| ENST00000342175.10:c.37834C>T (TTN) | ENSP00000340554.6:p.Arg12612Ter | |
| ENST00000342992.10:c.56749C>T (TTN) | ENSP00000343764.6:p.Arg18917Ter | |
| ENST00000359218.9:c.37633C>T (TTN) | ENSP00000352154.5:p.Arg12545Ter | |
| ENST00000460472.6:c.37258C>T (TTN) | ENSP00000434586.1:p.Arg12420Ter | |
| ENST00000589042.5:c.64453C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21485Ter | |
| ENST00000591111.5:c.59530C>T (TTN) | ENSP00000465570.1:p.Arg19844Ter | |
| ENST00000615779.4:c.59530C>T (TTN) | ENSP00000483597.1:p.Arg19844Ter | |
| NM_001256850.1:c.59530C>T (TTN) | NP_001243779.1:p.Arg19844Ter | |
| NM_001267550.2:c.64453C>T (TTN) MANE Select | NP_001254479.2:p.Arg21485Ter | |
| NM_003319.4:c.37258C>T (TTN) | NP_003310.4:p.Arg12420Ter | |
| NM_133378.4:c.56749C>T (TTN) | NP_596869.4:p.Arg18917Ter | |
| NM_133432.3:c.37633C>T (TTN) | NP_597676.3:p.Arg12545Ter | |
| NM_133437.4:c.37834C>T (TTN) | NP_597681.4:p.Arg12612Ter | |
| NR_038271.1:n.597-12305G>A (TTN-AS1) | ||
| NR_038272.1:n.3188+298G>A (TTN-AS1) | ||
| XM_011511729.1:c.63550C>T (TTN) | XP_011510031.1:p.Arg21184Ter | |
| XM_011511730.1:c.37444C>T (TTN) | XP_011510032.1:p.Arg12482Ter | |
| XM_011511731.1:c.37303C>T (TTN) | XP_011510033.1:p.Arg12435Ter | |
| XM_017004819.1:c.63346C>T (TTN) | XP_016860308.1:p.Arg21116Ter | |
| XM_017004820.1:c.58744C>T (TTN) | XP_016860309.1:p.Arg19582Ter | |
| XM_017004821.1:c.58741C>T (TTN) | XP_016860310.1:p.Arg19581Ter | |
| XM_017004822.1:c.55783C>T (TTN) | XP_016860311.1:p.Arg18595Ter | |
| XM_017004823.1:c.37399C>T (TTN) | XP_016860312.1:p.Arg12467Ter | |
| XM_024453094.1:c.58894C>T (TTN) | XP_024308862.1:p.Arg19632Ter | |
| XM_024453095.1:c.58891C>T (TTN) | XP_024308863.1:p.Arg19631Ter | |
| XM_024453096.1:c.58324C>T (TTN) | XP_024308864.1:p.Arg19442Ter | |
| XM_024453097.1:c.55666C>T (TTN) | XP_024308865.1:p.Arg18556Ter | |
| XM_024453098.1:c.55585C>T (TTN) | XP_024308866.1:p.Arg18529Ter | |
| XM_024453099.1:c.37348C>T (TTN) | XP_024308867.1:p.Arg12450Ter | |
| XM_024453100.1:c.27202C>T (TTN) | XP_024308868.1:p.Arg9068Ter |