Linked Data
ClinVar Variation Id:
202392
dbSNP Id:
rs794729275
gnomAD v2:
2-179460312-G-A
gnomAD v4:
2-178595585-G-A
PubMed:
PMID:22335739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178595585G>A , CM000664.2:g.178595585G>A | GRCh38 |
| NC_000002.11:g.179460312G>A , CM000664.1:g.179460312G>A | GRCh37 |
| NC_000002.10:g.179168558G>A | NCBI36 |
| NG_011618.3:g.240218C>T , LRG_391:g.240218C>T | |
| NG_051363.1:g.77759G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50065C>T (TTN) | ENSP00000343764.6:p.Arg16689Ter | |
| ENST00000342175.11:c.31150C>T (TTN) | ENSP00000340554.6:p.Arg10384Ter | |
| ENST00000359218.10:c.30949C>T (TTN) | ENSP00000352154.5:p.Arg10317Ter | |
| ENST00000342175.10:c.31150C>T (TTN) | ENSP00000340554.6:p.Arg10384Ter | |
| ENST00000342992.10:c.50065C>T (TTN) | ENSP00000343764.6:p.Arg16689Ter | |
| ENST00000359218.9:c.30949C>T (TTN) | ENSP00000352154.5:p.Arg10317Ter | |
| ENST00000460472.6:c.30574C>T (TTN) | ENSP00000434586.1:p.Arg10192Ter | |
| ENST00000589042.5:c.57769C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg19257Ter | |
| ENST00000591111.5:c.52846C>T (TTN) | ENSP00000465570.1:p.Arg17616Ter | |
| ENST00000615779.4:c.52846C>T (TTN) | ENSP00000483597.1:p.Arg17616Ter | |
| NM_001256850.1:c.52846C>T (TTN) | NP_001243779.1:p.Arg17616Ter | |
| NM_001267550.2:c.57769C>T (TTN) MANE Select | NP_001254479.2:p.Arg19257Ter | |
| NM_003319.4:c.30574C>T (TTN) | NP_003310.4:p.Arg10192Ter | |
| NM_133378.4:c.50065C>T (TTN) | NP_596869.4:p.Arg16689Ter | |
| NM_133432.3:c.30949C>T (TTN) | NP_597676.3:p.Arg10317Ter | |
| NM_133437.4:c.31150C>T (TTN) | NP_597681.4:p.Arg10384Ter | |
| NR_038271.1:n.597-2011G>A (TTN-AS1) | ||
| NR_038272.1:n.3365-2011G>A (TTN-AS1) | ||
| XM_011511729.1:c.56866C>T (TTN) | XP_011510031.1:p.Arg18956Ter | |
| XM_011511730.1:c.30760C>T (TTN) | XP_011510032.1:p.Arg10254Ter | |
| XM_011511731.1:c.30619C>T (TTN) | XP_011510033.1:p.Arg10207Ter | |
| XM_017004819.1:c.56662C>T (TTN) | XP_016860308.1:p.Arg18888Ter | |
| XM_017004820.1:c.52060C>T (TTN) | XP_016860309.1:p.Arg17354Ter | |
| XM_017004821.1:c.52057C>T (TTN) | XP_016860310.1:p.Arg17353Ter | |
| XM_017004822.1:c.49099C>T (TTN) | XP_016860311.1:p.Arg16367Ter | |
| XM_017004823.1:c.30715C>T (TTN) | XP_016860312.1:p.Arg10239Ter | |
| XM_024453094.1:c.52210C>T (TTN) | XP_024308862.1:p.Arg17404Ter | |
| XM_024453095.1:c.52207C>T (TTN) | XP_024308863.1:p.Arg17403Ter | |
| XM_024453096.1:c.51640C>T (TTN) | XP_024308864.1:p.Arg17214Ter | |
| XM_024453097.1:c.48982C>T (TTN) | XP_024308865.1:p.Arg16328Ter | |
| XM_024453098.1:c.48901C>T (TTN) | XP_024308866.1:p.Arg16301Ter | |
| XM_024453099.1:c.30664C>T (TTN) | XP_024308867.1:p.Arg10222Ter | |
| XM_024453100.1:c.20518C>T (TTN) | XP_024308868.1:p.Arg6840Ter |