Linked Data
ClinVar Variation Id:
178165
dbSNP Id:
rs377599569
ExAC:
2:179406162 G / A
gnomAD v2:
2-179406162-G-A
gnomAD v3:
2-178541435-G-A
gnomAD v4:
2-178541435-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178541435G>A , CM000664.2:g.178541435G>A | GRCh38 |
| NC_000002.11:g.179406162G>A , CM000664.1:g.179406162G>A | GRCh37 |
| NC_000002.10:g.179114408G>A | NCBI36 |
| NG_011618.3:g.294368C>T , LRG_391:g.294368C>T | |
| NG_051363.1:g.23609G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89938C>T (TTN) | ENSP00000343764.6:p.Arg29980Cys | |
| ENST00000342175.11:c.71023C>T (TTN) | ENSP00000340554.6:p.Arg23675Cys | |
| ENST00000359218.10:c.70822C>T (TTN) | ENSP00000352154.5:p.Arg23608Cys | |
| ENST00000342175.10:c.71023C>T (TTN) | ENSP00000340554.6:p.Arg23675Cys | |
| ENST00000342992.10:c.89938C>T (TTN) | ENSP00000343764.6:p.Arg29980Cys | |
| ENST00000359218.9:c.70822C>T (TTN) | ENSP00000352154.5:p.Arg23608Cys | |
| ENST00000460472.6:c.70447C>T (TTN) | ENSP00000434586.1:p.Arg23483Cys | |
| ENST00000589042.5:c.97642C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg32548Cys | |
| ENST00000591111.5:c.92719C>T (TTN) | ENSP00000465570.1:p.Arg30907Cys | |
| ENST00000615779.4:c.92719C>T (TTN) | ENSP00000483597.1:p.Arg30907Cys | |
| NM_001256850.1:c.92719C>T (TTN) | NP_001243779.1:p.Arg30907Cys | |
| NM_001267550.2:c.97642C>T (TTN) MANE Select | NP_001254479.2:p.Arg32548Cys | |
| NM_003319.4:c.70447C>T (TTN) | NP_003310.4:p.Arg23483Cys | |
| NM_133378.4:c.89938C>T (TTN) | NP_596869.4:p.Arg29980Cys | |
| NM_133432.3:c.70822C>T (TTN) | NP_597676.3:p.Arg23608Cys | |
| NM_133437.4:c.71023C>T (TTN) | NP_597681.4:p.Arg23675Cys | |
| NR_038271.1:n.446+17799G>A (TTN-AS1) | ||
| NR_038272.1:n.1904-787G>A (TTN-AS1) | ||
| XM_011511729.1:c.96739C>T (TTN) | XP_011510031.1:p.Arg32247Cys | |
| XM_011511730.1:c.70633C>T (TTN) | XP_011510032.1:p.Arg23545Cys | |
| XM_011511731.1:c.70492C>T (TTN) | XP_011510033.1:p.Arg23498Cys | |
| XM_017004819.1:c.96535C>T (TTN) | XP_016860308.1:p.Arg32179Cys | |
| XM_017004820.1:c.91933C>T (TTN) | XP_016860309.1:p.Arg30645Cys | |
| XM_017004821.1:c.91930C>T (TTN) | XP_016860310.1:p.Arg30644Cys | |
| XM_017004822.1:c.88972C>T (TTN) | XP_016860311.1:p.Arg29658Cys | |
| XM_017004823.1:c.70588C>T (TTN) | XP_016860312.1:p.Arg23530Cys | |
| XM_024453094.1:c.92083C>T (TTN) | XP_024308862.1:p.Arg30695Cys | |
| XM_024453095.1:c.92080C>T (TTN) | XP_024308863.1:p.Arg30694Cys | |
| XM_024453096.1:c.91513C>T (TTN) | XP_024308864.1:p.Arg30505Cys | |
| XM_024453097.1:c.88855C>T (TTN) | XP_024308865.1:p.Arg29619Cys | |
| XM_024453098.1:c.88774C>T (TTN) | XP_024308866.1:p.Arg29592Cys | |
| XM_024453099.1:c.70537C>T (TTN) | XP_024308867.1:p.Arg23513Cys | |
| XM_024453100.1:c.60391C>T (TTN) | XP_024308868.1:p.Arg20131Cys |