Linked Data
ClinVar Variation Id:
191860
ClinVar RCV Id:
RCV000172209
RCV000242895
RCV000499612
RCV000528669
RCV000765548
RCV001798612
RCV003335176
dbSNP Id:
rs200503016
ExAC:
2:179418418 C / T
gnomAD v2:
2-179418418-C-T
gnomAD v3:
2-178553691-C-T
gnomAD v4:
2-178553691-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553691C>T , CM000664.2:g.178553691C>T | GRCh38 |
| NC_000002.11:g.179418418C>T , CM000664.1:g.179418418C>T | GRCh37 |
| NC_000002.10:g.179126664C>T | NCBI36 |
| NG_011618.3:g.282112G>A , LRG_391:g.282112G>A | |
| NG_051363.1:g.35865C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.81610G>A (TTN) | ENSP00000343764.6:p.Glu27204Lys | |
| ENST00000342175.11:c.62695G>A (TTN) | ENSP00000340554.6:p.Glu20899Lys | |
| ENST00000359218.10:c.62494G>A (TTN) | ENSP00000352154.5:p.Glu20832Lys | |
| ENST00000342175.10:c.62695G>A (TTN) | ENSP00000340554.6:p.Glu20899Lys | |
| ENST00000342992.10:c.81610G>A (TTN) | ENSP00000343764.6:p.Glu27204Lys | |
| ENST00000359218.9:c.62494G>A (TTN) | ENSP00000352154.5:p.Glu20832Lys | |
| ENST00000460472.6:c.62119G>A (TTN) | ENSP00000434586.1:p.Glu20707Lys | |
| ENST00000589042.5:c.89314G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu29772Lys | |
| ENST00000591111.5:c.84391G>A (TTN) | ENSP00000465570.1:p.Glu28131Lys | |
| ENST00000615779.4:c.84391G>A (TTN) | ENSP00000483597.1:p.Glu28131Lys | |
| NM_001256850.1:c.84391G>A (TTN) | NP_001243779.1:p.Glu28131Lys | |
| NM_001267550.2:c.89314G>A (TTN) MANE Select | NP_001254479.2:p.Glu29772Lys | |
| NM_003319.4:c.62119G>A (TTN) | NP_003310.4:p.Glu20707Lys | |
| NM_133378.4:c.81610G>A (TTN) | NP_596869.4:p.Glu27204Lys | |
| NM_133432.3:c.62494G>A (TTN) | NP_597676.3:p.Glu20832Lys | |
| NM_133437.4:c.62695G>A (TTN) | NP_597681.4:p.Glu20899Lys | |
| NR_038271.1:n.447-17609C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+11330C>T (TTN-AS1) | ||
| XM_011511729.1:c.88411G>A (TTN) | XP_011510031.1:p.Glu29471Lys | |
| XM_011511730.1:c.62305G>A (TTN) | XP_011510032.1:p.Glu20769Lys | |
| XM_011511731.1:c.62164G>A (TTN) | XP_011510033.1:p.Glu20722Lys | |
| XM_017004819.1:c.88207G>A (TTN) | XP_016860308.1:p.Glu29403Lys | |
| XM_017004820.1:c.83605G>A (TTN) | XP_016860309.1:p.Glu27869Lys | |
| XM_017004821.1:c.83602G>A (TTN) | XP_016860310.1:p.Glu27868Lys | |
| XM_017004822.1:c.80644G>A (TTN) | XP_016860311.1:p.Glu26882Lys | |
| XM_017004823.1:c.62260G>A (TTN) | XP_016860312.1:p.Glu20754Lys | |
| XM_024453094.1:c.83755G>A (TTN) | XP_024308862.1:p.Glu27919Lys | |
| XM_024453095.1:c.83752G>A (TTN) | XP_024308863.1:p.Glu27918Lys | |
| XM_024453096.1:c.83185G>A (TTN) | XP_024308864.1:p.Glu27729Lys | |
| XM_024453097.1:c.80527G>A (TTN) | XP_024308865.1:p.Glu26843Lys | |
| XM_024453098.1:c.80446G>A (TTN) | XP_024308866.1:p.Glu26816Lys | |
| XM_024453099.1:c.62209G>A (TTN) | XP_024308867.1:p.Glu20737Lys | |
| XM_024453100.1:c.52063G>A (TTN) | XP_024308868.1:p.Glu17355Lys |