Linked Data
ClinVar Variation Id:
47552
ClinVar RCV Id:
RCV000040821
RCV000172617
RCV000620427
RCV001131620
RCV001079500
RCV001131619
RCV001131616
RCV001131617
RCV001131618
RCV001170761
RCV004534943
dbSNP Id:
rs142525903
ExAC:
2:179410721 G / A
gnomAD v2:
2-179410721-G-A
gnomAD v3:
2-178545994-G-A
gnomAD v4:
2-178545994-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545994G>A , CM000664.2:g.178545994G>A | GRCh38 |
| NC_000002.11:g.179410721G>A , CM000664.1:g.179410721G>A | GRCh37 |
| NC_000002.10:g.179118967G>A | NCBI36 |
| NG_011618.3:g.289809C>T , LRG_391:g.289809C>T | |
| NG_051363.1:g.28168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87538C>T (TTN) | ENSP00000343764.6:p.Arg29180Cys | |
| ENST00000342175.11:c.68623C>T (TTN) | ENSP00000340554.6:p.Arg22875Cys | |
| ENST00000359218.10:c.68422C>T (TTN) | ENSP00000352154.5:p.Arg22808Cys | |
| ENST00000342175.10:c.68623C>T (TTN) | ENSP00000340554.6:p.Arg22875Cys | |
| ENST00000342992.10:c.87538C>T (TTN) | ENSP00000343764.6:p.Arg29180Cys | |
| ENST00000359218.9:c.68422C>T (TTN) | ENSP00000352154.5:p.Arg22808Cys | |
| ENST00000460472.6:c.68047C>T (TTN) | ENSP00000434586.1:p.Arg22683Cys | |
| ENST00000589042.5:c.95242C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg31748Cys | |
| ENST00000591111.5:c.90319C>T (TTN) | ENSP00000465570.1:p.Arg30107Cys | |
| ENST00000615779.4:c.90319C>T (TTN) | ENSP00000483597.1:p.Arg30107Cys | |
| NM_001256850.1:c.90319C>T (TTN) | NP_001243779.1:p.Arg30107Cys | |
| NM_001267550.2:c.95242C>T (TTN) MANE Select | NP_001254479.2:p.Arg31748Cys | |
| NM_003319.4:c.68047C>T (TTN) | NP_003310.4:p.Arg22683Cys | |
| NM_133378.4:c.87538C>T (TTN) | NP_596869.4:p.Arg29180Cys | |
| NM_133432.3:c.68422C>T (TTN) | NP_597676.3:p.Arg22808Cys | |
| NM_133437.4:c.68623C>T (TTN) | NP_597681.4:p.Arg22875Cys | |
| NR_038271.1:n.446+22358G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+3633G>A (TTN-AS1) | ||
| XM_011511729.1:c.94339C>T (TTN) | XP_011510031.1:p.Arg31447Cys | |
| XM_011511730.1:c.68233C>T (TTN) | XP_011510032.1:p.Arg22745Cys | |
| XM_011511731.1:c.68092C>T (TTN) | XP_011510033.1:p.Arg22698Cys | |
| XM_017004819.1:c.94135C>T (TTN) | XP_016860308.1:p.Arg31379Cys | |
| XM_017004820.1:c.89533C>T (TTN) | XP_016860309.1:p.Arg29845Cys | |
| XM_017004821.1:c.89530C>T (TTN) | XP_016860310.1:p.Arg29844Cys | |
| XM_017004822.1:c.86572C>T (TTN) | XP_016860311.1:p.Arg28858Cys | |
| XM_017004823.1:c.68188C>T (TTN) | XP_016860312.1:p.Arg22730Cys | |
| XM_024453094.1:c.89683C>T (TTN) | XP_024308862.1:p.Arg29895Cys | |
| XM_024453095.1:c.89680C>T (TTN) | XP_024308863.1:p.Arg29894Cys | |
| XM_024453096.1:c.89113C>T (TTN) | XP_024308864.1:p.Arg29705Cys | |
| XM_024453097.1:c.86455C>T (TTN) | XP_024308865.1:p.Arg28819Cys | |
| XM_024453098.1:c.86374C>T (TTN) | XP_024308866.1:p.Arg28792Cys | |
| XM_024453099.1:c.68137C>T (TTN) | XP_024308867.1:p.Arg22713Cys | |
| XM_024453100.1:c.57991C>T (TTN) | XP_024308868.1:p.Arg19331Cys |