Linked Data
ClinVar Variation Id:
332729
ClinVar RCV Id:
RCV000261221
RCV000273979
RCV000301245
RCV000313974
RCV000370975
RCV000727949
RCV001088384
RCV002356450
dbSNP Id:
rs545632095
ExAC:
2:179414391 G / A
gnomAD v2:
2-179414391-G-A
gnomAD v3:
2-178549664-G-A
gnomAD v4:
2-178549664-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549664G>A , CM000664.2:g.178549664G>A | GRCh38 |
| NC_000002.11:g.179414391G>A , CM000664.1:g.179414391G>A | GRCh37 |
| NC_000002.10:g.179122637G>A | NCBI36 |
| NG_011618.3:g.286139C>T , LRG_391:g.286139C>T | |
| NG_051363.1:g.31838G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84354C>T (TTN) | ENSP00000343764.6:p.Asn28118= | |
| ENST00000342175.11:c.65439C>T (TTN) | ENSP00000340554.6:p.Asn21813= | |
| ENST00000359218.10:c.65238C>T (TTN) | ENSP00000352154.5:p.Asn21746= | |
| ENST00000342175.10:c.65439C>T (TTN) | ENSP00000340554.6:p.Asn21813= | |
| ENST00000342992.10:c.84354C>T (TTN) | ENSP00000343764.6:p.Asn28118= | |
| ENST00000359218.9:c.65238C>T (TTN) | ENSP00000352154.5:p.Asn21746= | |
| ENST00000460472.6:c.64863C>T (TTN) | ENSP00000434586.1:p.Asn21621= | |
| ENST00000589042.5:c.92058C>T (TTN) MANE Select | ENSP00000467141.1:p.Asn30686= | |
| ENST00000591111.5:c.87135C>T (TTN) | ENSP00000465570.1:p.Asn29045= | |
| ENST00000615779.4:c.87135C>T (TTN) | ENSP00000483597.1:p.Asn29045= | |
| NM_001256850.1:c.87135C>T (TTN) | NP_001243779.1:p.Asn29045= | |
| NM_001267550.2:c.92058C>T (TTN) MANE Select | NP_001254479.2:p.Asn30686= | |
| NM_003319.4:c.64863C>T (TTN) | NP_003310.4:p.Asn21621= | |
| NM_133378.4:c.84354C>T (TTN) | NP_596869.4:p.Asn28118= | |
| NM_133432.3:c.65238C>T (TTN) | NP_597676.3:p.Asn21746= | |
| NM_133437.4:c.65439C>T (TTN) | NP_597681.4:p.Asn21813= | |
| NR_038271.1:n.447-21636G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+7303G>A (TTN-AS1) | ||
| XM_011511729.1:c.91155C>T (TTN) | XP_011510031.1:p.Asn30385= | |
| XM_011511730.1:c.65049C>T (TTN) | XP_011510032.1:p.Asn21683= | |
| XM_011511731.1:c.64908C>T (TTN) | XP_011510033.1:p.Asn21636= | |
| XM_017004819.1:c.90951C>T (TTN) | XP_016860308.1:p.Asn30317= | |
| XM_017004820.1:c.86349C>T (TTN) | XP_016860309.1:p.Asn28783= | |
| XM_017004821.1:c.86346C>T (TTN) | XP_016860310.1:p.Asn28782= | |
| XM_017004822.1:c.83388C>T (TTN) | XP_016860311.1:p.Asn27796= | |
| XM_017004823.1:c.65004C>T (TTN) | XP_016860312.1:p.Asn21668= | |
| XM_024453094.1:c.86499C>T (TTN) | XP_024308862.1:p.Asn28833= | |
| XM_024453095.1:c.86496C>T (TTN) | XP_024308863.1:p.Asn28832= | |
| XM_024453096.1:c.85929C>T (TTN) | XP_024308864.1:p.Asn28643= | |
| XM_024453097.1:c.83271C>T (TTN) | XP_024308865.1:p.Asn27757= | |
| XM_024453098.1:c.83190C>T (TTN) | XP_024308866.1:p.Asn27730= | |
| XM_024453099.1:c.64953C>T (TTN) | XP_024308867.1:p.Asn21651= | |
| XM_024453100.1:c.54807C>T (TTN) | XP_024308868.1:p.Asn18269= |