Linked Data
ClinVar Variation Id:
178197
ClinVar RCV Id:
RCV000154927
RCV000487687
RCV001086131
RCV001131379
RCV001134378
RCV001131378
RCV001131380
RCV001134377
RCV002321642
RCV003486694
dbSNP Id:
rs79406408
ExAC:
2:179443675 G / A
gnomAD v2:
2-179443675-G-A
gnomAD v3:
2-178578948-G-A
gnomAD v4:
2-178578948-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578948G>A , CM000664.2:g.178578948G>A | GRCh38 |
| NC_000002.11:g.179443675G>A , CM000664.1:g.179443675G>A | GRCh37 |
| NC_000002.10:g.179151921G>A | NCBI36 |
| NG_011618.3:g.256855C>T , LRG_391:g.256855C>T | |
| NG_051363.1:g.61122G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60378C>T (TTN) | ENSP00000343764.6:p.Cys20126= | |
| ENST00000342175.11:c.41463C>T (TTN) | ENSP00000340554.6:p.Cys13821= | |
| ENST00000359218.10:c.41262C>T (TTN) | ENSP00000352154.5:p.Cys13754= | |
| ENST00000342175.10:c.41463C>T (TTN) | ENSP00000340554.6:p.Cys13821= | |
| ENST00000342992.10:c.60378C>T (TTN) | ENSP00000343764.6:p.Cys20126= | |
| ENST00000359218.9:c.41262C>T (TTN) | ENSP00000352154.5:p.Cys13754= | |
| ENST00000460472.6:c.40887C>T (TTN) | ENSP00000434586.1:p.Cys13629= | |
| ENST00000589042.5:c.68082C>T (TTN) MANE Select | ENSP00000467141.1:p.Cys22694= | |
| ENST00000591111.5:c.63159C>T (TTN) | ENSP00000465570.1:p.Cys21053= | |
| ENST00000615779.4:c.63159C>T (TTN) | ENSP00000483597.1:p.Cys21053= | |
| NM_001256850.1:c.63159C>T (TTN) | NP_001243779.1:p.Cys21053= | |
| NM_001267550.2:c.68082C>T (TTN) MANE Select | NP_001254479.2:p.Cys22694= | |
| NM_003319.4:c.40887C>T (TTN) | NP_003310.4:p.Cys13629= | |
| NM_133378.4:c.60378C>T (TTN) | NP_596869.4:p.Cys20126= | |
| NM_133432.3:c.41262C>T (TTN) | NP_597676.3:p.Cys13754= | |
| NM_133437.4:c.41463C>T (TTN) | NP_597681.4:p.Cys13821= | |
| NR_038271.1:n.596+7499G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-3624G>A (TTN-AS1) | ||
| XM_011511729.1:c.67179C>T (TTN) | XP_011510031.1:p.Cys22393= | |
| XM_011511730.1:c.41073C>T (TTN) | XP_011510032.1:p.Cys13691= | |
| XM_011511731.1:c.40932C>T (TTN) | XP_011510033.1:p.Cys13644= | |
| XM_017004819.1:c.66975C>T (TTN) | XP_016860308.1:p.Cys22325= | |
| XM_017004820.1:c.62373C>T (TTN) | XP_016860309.1:p.Cys20791= | |
| XM_017004821.1:c.62370C>T (TTN) | XP_016860310.1:p.Cys20790= | |
| XM_017004822.1:c.59412C>T (TTN) | XP_016860311.1:p.Cys19804= | |
| XM_017004823.1:c.41028C>T (TTN) | XP_016860312.1:p.Cys13676= | |
| XM_024453094.1:c.62523C>T (TTN) | XP_024308862.1:p.Cys20841= | |
| XM_024453095.1:c.62520C>T (TTN) | XP_024308863.1:p.Cys20840= | |
| XM_024453096.1:c.61953C>T (TTN) | XP_024308864.1:p.Cys20651= | |
| XM_024453097.1:c.59295C>T (TTN) | XP_024308865.1:p.Cys19765= | |
| XM_024453098.1:c.59214C>T (TTN) | XP_024308866.1:p.Cys19738= | |
| XM_024453099.1:c.40977C>T (TTN) | XP_024308867.1:p.Cys13659= | |
| XM_024453100.1:c.30831C>T (TTN) | XP_024308868.1:p.Cys10277= |