Linked Data
dbSNP Id:
rs781781445
gnomAD v2:
2-179434611-G-T
gnomAD v3:
2-178569884-G-T
gnomAD v4:
2-178569884-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569884G>T , CM000664.2:g.178569884G>T | GRCh38 |
| NC_000002.11:g.179434611G>T , CM000664.1:g.179434611G>T | GRCh37 |
| NC_000002.10:g.179142857G>T | NCBI36 |
| NG_011618.3:g.265919C>A , LRG_391:g.265919C>A | |
| NG_051363.1:g.52058G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68544C>A (TTN) | ENSP00000343764.6:p.Asp22848Glu | |
| ENST00000342175.11:c.49629C>A (TTN) | ENSP00000340554.6:p.Asp16543Glu | |
| ENST00000359218.10:c.49428C>A (TTN) | ENSP00000352154.5:p.Asp16476Glu | |
| ENST00000342175.10:c.49629C>A (TTN) | ENSP00000340554.6:p.Asp16543Glu | |
| ENST00000342992.10:c.68544C>A (TTN) | ENSP00000343764.6:p.Asp22848Glu | |
| ENST00000359218.9:c.49428C>A (TTN) | ENSP00000352154.5:p.Asp16476Glu | |
| ENST00000460472.6:c.49053C>A (TTN) | ENSP00000434586.1:p.Asp16351Glu | |
| ENST00000589042.5:c.76248C>A (TTN) MANE Select | ENSP00000467141.1:p.Asp25416Glu | |
| ENST00000591111.5:c.71325C>A (TTN) | ENSP00000465570.1:p.Asp23775Glu | |
| ENST00000615779.4:c.71325C>A (TTN) | ENSP00000483597.1:p.Asp23775Glu | |
| NM_001256850.1:c.71325C>A (TTN) | NP_001243779.1:p.Asp23775Glu | |
| NM_001267550.2:c.76248C>A (TTN) MANE Select | NP_001254479.2:p.Asp25416Glu | |
| NM_003319.4:c.49053C>A (TTN) | NP_003310.4:p.Asp16351Glu | |
| NM_133378.4:c.68544C>A (TTN) | NP_596869.4:p.Asp22848Glu | |
| NM_133432.3:c.49428C>A (TTN) | NP_597676.3:p.Asp16476Glu | |
| NM_133437.4:c.49629C>A (TTN) | NP_597681.4:p.Asp16543Glu | |
| NR_038271.1:n.447-1416G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-12688G>T (TTN-AS1) | ||
| XM_011511729.1:c.75345C>A (TTN) | XP_011510031.1:p.Asp25115Glu | |
| XM_011511730.1:c.49239C>A (TTN) | XP_011510032.1:p.Asp16413Glu | |
| XM_011511731.1:c.49098C>A (TTN) | XP_011510033.1:p.Asp16366Glu | |
| XM_017004819.1:c.75141C>A (TTN) | XP_016860308.1:p.Asp25047Glu | |
| XM_017004820.1:c.70539C>A (TTN) | XP_016860309.1:p.Asp23513Glu | |
| XM_017004821.1:c.70536C>A (TTN) | XP_016860310.1:p.Asp23512Glu | |
| XM_017004822.1:c.67578C>A (TTN) | XP_016860311.1:p.Asp22526Glu | |
| XM_017004823.1:c.49194C>A (TTN) | XP_016860312.1:p.Asp16398Glu | |
| XM_024453094.1:c.70689C>A (TTN) | XP_024308862.1:p.Asp23563Glu | |
| XM_024453095.1:c.70686C>A (TTN) | XP_024308863.1:p.Asp23562Glu | |
| XM_024453096.1:c.70119C>A (TTN) | XP_024308864.1:p.Asp23373Glu | |
| XM_024453097.1:c.67461C>A (TTN) | XP_024308865.1:p.Asp22487Glu | |
| XM_024453098.1:c.67380C>A (TTN) | XP_024308866.1:p.Asp22460Glu | |
| XM_024453099.1:c.49143C>A (TTN) | XP_024308867.1:p.Asp16381Glu | |
| XM_024453100.1:c.38997C>A (TTN) | XP_024308868.1:p.Asp12999Glu |