Linked Data
ClinVar Variation Id:
192158
dbSNP Id:
rs201724962
ExAC:
2:179436355 T / C
gnomAD v2:
2-179436355-T-C
gnomAD v3:
2-178571628-T-C
gnomAD v4:
2-178571628-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571628T>C , CM000664.2:g.178571628T>C | GRCh38 |
| NC_000002.11:g.179436355T>C , CM000664.1:g.179436355T>C | GRCh37 |
| NC_000002.10:g.179144601T>C | NCBI36 |
| NG_011618.3:g.264175A>G , LRG_391:g.264175A>G | |
| NG_051363.1:g.53802T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66800A>G (TTN) | ENSP00000343764.6:p.Tyr22267Cys | |
| ENST00000342175.11:c.47885A>G (TTN) | ENSP00000340554.6:p.Tyr15962Cys | |
| ENST00000359218.10:c.47684A>G (TTN) | ENSP00000352154.5:p.Tyr15895Cys | |
| ENST00000342175.10:c.47885A>G (TTN) | ENSP00000340554.6:p.Tyr15962Cys | |
| ENST00000342992.10:c.66800A>G (TTN) | ENSP00000343764.6:p.Tyr22267Cys | |
| ENST00000359218.9:c.47684A>G (TTN) | ENSP00000352154.5:p.Tyr15895Cys | |
| ENST00000460472.6:c.47309A>G (TTN) | ENSP00000434586.1:p.Tyr15770Cys | |
| ENST00000589042.5:c.74504A>G (TTN) MANE Select | ENSP00000467141.1:p.Tyr24835Cys | |
| ENST00000591111.5:c.69581A>G (TTN) | ENSP00000465570.1:p.Tyr23194Cys | |
| ENST00000615779.4:c.69581A>G (TTN) | ENSP00000483597.1:p.Tyr23194Cys | |
| NM_001256850.1:c.69581A>G (TTN) | NP_001243779.1:p.Tyr23194Cys | |
| NM_001267550.2:c.74504A>G (TTN) MANE Select | NP_001254479.2:p.Tyr24835Cys | |
| NM_003319.4:c.47309A>G (TTN) | NP_003310.4:p.Tyr15770Cys | |
| NM_133378.4:c.66800A>G (TTN) | NP_596869.4:p.Tyr22267Cys | |
| NM_133432.3:c.47684A>G (TTN) | NP_597676.3:p.Tyr15895Cys | |
| NM_133437.4:c.47885A>G (TTN) | NP_597681.4:p.Tyr15962Cys | |
| NR_038271.1:n.596+179T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-10944T>C (TTN-AS1) | ||
| XM_011511729.1:c.73601A>G (TTN) | XP_011510031.1:p.Tyr24534Cys | |
| XM_011511730.1:c.47495A>G (TTN) | XP_011510032.1:p.Tyr15832Cys | |
| XM_011511731.1:c.47354A>G (TTN) | XP_011510033.1:p.Tyr15785Cys | |
| XM_017004819.1:c.73397A>G (TTN) | XP_016860308.1:p.Tyr24466Cys | |
| XM_017004820.1:c.68795A>G (TTN) | XP_016860309.1:p.Tyr22932Cys | |
| XM_017004821.1:c.68792A>G (TTN) | XP_016860310.1:p.Tyr22931Cys | |
| XM_017004822.1:c.65834A>G (TTN) | XP_016860311.1:p.Tyr21945Cys | |
| XM_017004823.1:c.47450A>G (TTN) | XP_016860312.1:p.Tyr15817Cys | |
| XM_024453094.1:c.68945A>G (TTN) | XP_024308862.1:p.Tyr22982Cys | |
| XM_024453095.1:c.68942A>G (TTN) | XP_024308863.1:p.Tyr22981Cys | |
| XM_024453096.1:c.68375A>G (TTN) | XP_024308864.1:p.Tyr22792Cys | |
| XM_024453097.1:c.65717A>G (TTN) | XP_024308865.1:p.Tyr21906Cys | |
| XM_024453098.1:c.65636A>G (TTN) | XP_024308866.1:p.Tyr21879Cys | |
| XM_024453099.1:c.47399A>G (TTN) | XP_024308867.1:p.Tyr15800Cys | |
| XM_024453100.1:c.37253A>G (TTN) | XP_024308868.1:p.Tyr12418Cys |