Linked Data
ClinVar Variation Id:
177968
ClinVar RCV Id:
RCV000154641
RCV000868561
RCV001133349
RCV001133350
RCV001133347
RCV001133348
RCV001134817
RCV001697052
RCV004534958
dbSNP Id:
rs3813249
ExAC:
2:179396130 G / C
gnomAD v2:
2-179396130-G-C
gnomAD v3:
2-178531403-G-C
gnomAD v4:
2-178531403-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531403G>C , CM000664.2:g.178531403G>C | GRCh38 |
| NC_000002.11:g.179396130G>C , CM000664.1:g.179396130G>C | GRCh37 |
| NC_000002.10:g.179104376G>C | NCBI36 |
| NG_011618.3:g.304400C>G , LRG_391:g.304400C>G | |
| NG_051363.1:g.13577G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97508C>G (TTN) | ENSP00000343764.6:p.Ser32503Cys | |
| ENST00000342175.11:c.78593C>G (TTN) | ENSP00000340554.6:p.Ser26198Cys | |
| ENST00000359218.10:c.78392C>G (TTN) | ENSP00000352154.5:p.Ser26131Cys | |
| ENST00000342175.10:c.78593C>G (TTN) | ENSP00000340554.6:p.Ser26198Cys | |
| ENST00000342992.10:c.97508C>G (TTN) | ENSP00000343764.6:p.Ser32503Cys | |
| ENST00000359218.9:c.78392C>G (TTN) | ENSP00000352154.5:p.Ser26131Cys | |
| ENST00000460472.6:c.78017C>G (TTN) | ENSP00000434586.1:p.Ser26006Cys | |
| ENST00000589042.5:c.105212C>G (TTN) MANE Select | ENSP00000467141.1:p.Ser35071Cys | |
| ENST00000591111.5:c.100289C>G (TTN) | ENSP00000465570.1:p.Ser33430Cys | |
| ENST00000615779.4:c.100289C>G (TTN) | ENSP00000483597.1:p.Ser33430Cys | |
| NM_001256850.1:c.100289C>G (TTN) | NP_001243779.1:p.Ser33430Cys | |
| NM_001267550.2:c.105212C>G (TTN) MANE Select | NP_001254479.2:p.Ser35071Cys | |
| NM_003319.4:c.78017C>G (TTN) | NP_003310.4:p.Ser26006Cys | |
| NM_133378.4:c.97508C>G (TTN) | NP_596869.4:p.Ser32503Cys | |
| NM_133432.3:c.78392C>G (TTN) | NP_597676.3:p.Ser26131Cys | |
| NM_133437.4:c.78593C>G (TTN) | NP_597681.4:p.Ser26198Cys | |
| NR_038271.1:n.446+7767G>C (TTN-AS1) | ||
| NR_038272.1:n.220-4329G>C (TTN-AS1) | ||
| XM_011511729.1:c.104309C>G (TTN) | XP_011510031.1:p.Ser34770Cys | |
| XM_011511730.1:c.78203C>G (TTN) | XP_011510032.1:p.Ser26068Cys | |
| XM_011511731.1:c.78062C>G (TTN) | XP_011510033.1:p.Ser26021Cys | |
| XM_017004819.1:c.104105C>G (TTN) | XP_016860308.1:p.Ser34702Cys | |
| XM_017004820.1:c.99503C>G (TTN) | XP_016860309.1:p.Ser33168Cys | |
| XM_017004821.1:c.99500C>G (TTN) | XP_016860310.1:p.Ser33167Cys | |
| XM_017004822.1:c.96542C>G (TTN) | XP_016860311.1:p.Ser32181Cys | |
| XM_017004823.1:c.78158C>G (TTN) | XP_016860312.1:p.Ser26053Cys | |
| XM_024453094.1:c.99653C>G (TTN) | XP_024308862.1:p.Ser33218Cys | |
| XM_024453095.1:c.99650C>G (TTN) | XP_024308863.1:p.Ser33217Cys | |
| XM_024453096.1:c.99083C>G (TTN) | XP_024308864.1:p.Ser33028Cys | |
| XM_024453097.1:c.96425C>G (TTN) | XP_024308865.1:p.Ser32142Cys | |
| XM_024453098.1:c.96344C>G (TTN) | XP_024308866.1:p.Ser32115Cys | |
| XM_024453099.1:c.78107C>G (TTN) | XP_024308867.1:p.Ser26036Cys | |
| XM_024453100.1:c.67961C>G (TTN) | XP_024308868.1:p.Ser22654Cys |