Linked Data
ClinVar Variation Id:
47683
ClinVar RCV Id:
RCV000040952
RCV000228793
RCV000275138
RCV000333536
RCV000330183
RCV000369582
RCV000383536
RCV000620982
RCV001081694
RCV001170285
dbSNP Id:
rs200378865
ExAC:
2:179396215 G / A
gnomAD v2:
2-179396215-G-A
gnomAD v3:
2-178531488-G-A
gnomAD v4:
2-178531488-G-A
PubMed:
PMID:24558114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531488G>A , CM000664.2:g.178531488G>A | GRCh38 |
| NC_000002.11:g.179396215G>A , CM000664.1:g.179396215G>A | GRCh37 |
| NC_000002.10:g.179104461G>A | NCBI36 |
| NG_011618.3:g.304315C>T , LRG_391:g.304315C>T | |
| NG_051363.1:g.13662G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97423C>T (TTN) | ENSP00000343764.6:p.Arg32475Cys | |
| ENST00000342175.11:c.78508C>T (TTN) | ENSP00000340554.6:p.Arg26170Cys | |
| ENST00000359218.10:c.78307C>T (TTN) | ENSP00000352154.5:p.Arg26103Cys | |
| ENST00000342175.10:c.78508C>T (TTN) | ENSP00000340554.6:p.Arg26170Cys | |
| ENST00000342992.10:c.97423C>T (TTN) | ENSP00000343764.6:p.Arg32475Cys | |
| ENST00000359218.9:c.78307C>T (TTN) | ENSP00000352154.5:p.Arg26103Cys | |
| ENST00000460472.6:c.77932C>T (TTN) | ENSP00000434586.1:p.Arg25978Cys | |
| ENST00000589042.5:c.105127C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg35043Cys | |
| ENST00000591111.5:c.100204C>T (TTN) | ENSP00000465570.1:p.Arg33402Cys | |
| ENST00000615779.4:c.100204C>T (TTN) | ENSP00000483597.1:p.Arg33402Cys | |
| NM_001256850.1:c.100204C>T (TTN) | NP_001243779.1:p.Arg33402Cys | |
| NM_001267550.2:c.105127C>T (TTN) MANE Select | NP_001254479.2:p.Arg35043Cys | |
| NM_003319.4:c.77932C>T (TTN) | NP_003310.4:p.Arg25978Cys | |
| NM_133378.4:c.97423C>T (TTN) | NP_596869.4:p.Arg32475Cys | |
| NM_133432.3:c.78307C>T (TTN) | NP_597676.3:p.Arg26103Cys | |
| NM_133437.4:c.78508C>T (TTN) | NP_597681.4:p.Arg26170Cys | |
| NR_038271.1:n.446+7852G>A (TTN-AS1) | ||
| NR_038272.1:n.220-4244G>A (TTN-AS1) | ||
| XM_011511729.1:c.104224C>T (TTN) | XP_011510031.1:p.Arg34742Cys | |
| XM_011511730.1:c.78118C>T (TTN) | XP_011510032.1:p.Arg26040Cys | |
| XM_011511731.1:c.77977C>T (TTN) | XP_011510033.1:p.Arg25993Cys | |
| XM_017004819.1:c.104020C>T (TTN) | XP_016860308.1:p.Arg34674Cys | |
| XM_017004820.1:c.99418C>T (TTN) | XP_016860309.1:p.Arg33140Cys | |
| XM_017004821.1:c.99415C>T (TTN) | XP_016860310.1:p.Arg33139Cys | |
| XM_017004822.1:c.96457C>T (TTN) | XP_016860311.1:p.Arg32153Cys | |
| XM_017004823.1:c.78073C>T (TTN) | XP_016860312.1:p.Arg26025Cys | |
| XM_024453094.1:c.99568C>T (TTN) | XP_024308862.1:p.Arg33190Cys | |
| XM_024453095.1:c.99565C>T (TTN) | XP_024308863.1:p.Arg33189Cys | |
| XM_024453096.1:c.98998C>T (TTN) | XP_024308864.1:p.Arg33000Cys | |
| XM_024453097.1:c.96340C>T (TTN) | XP_024308865.1:p.Arg32114Cys | |
| XM_024453098.1:c.96259C>T (TTN) | XP_024308866.1:p.Arg32087Cys | |
| XM_024453099.1:c.78022C>T (TTN) | XP_024308867.1:p.Arg26008Cys | |
| XM_024453100.1:c.67876C>T (TTN) | XP_024308868.1:p.Arg22626Cys |