Linked Data
ClinVar Variation Id:
179418
dbSNP Id:
rs727504857
ExAC:
2:179410833 G / T
gnomAD v2:
2-179410833-G-T
gnomAD v3:
2-178546106-G-T
gnomAD v4:
2-178546106-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546106G>T , CM000664.2:g.178546106G>T | GRCh38 |
| NC_000002.11:g.179410833G>T , CM000664.1:g.179410833G>T | GRCh37 |
| NC_000002.10:g.179119079G>T | NCBI36 |
| NG_011618.3:g.289697C>A , LRG_391:g.289697C>A | |
| NG_051363.1:g.28280G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87426C>A (TTN) | ENSP00000343764.6:p.Gly29142= | |
| ENST00000342175.11:c.68511C>A (TTN) | ENSP00000340554.6:p.Gly22837= | |
| ENST00000359218.10:c.68310C>A (TTN) | ENSP00000352154.5:p.Gly22770= | |
| ENST00000342175.10:c.68511C>A (TTN) | ENSP00000340554.6:p.Gly22837= | |
| ENST00000342992.10:c.87426C>A (TTN) | ENSP00000343764.6:p.Gly29142= | |
| ENST00000359218.9:c.68310C>A (TTN) | ENSP00000352154.5:p.Gly22770= | |
| ENST00000460472.6:c.67935C>A (TTN) | ENSP00000434586.1:p.Gly22645= | |
| ENST00000589042.5:c.95130C>A (TTN) MANE Select | ENSP00000467141.1:p.Gly31710= | |
| ENST00000591111.5:c.90207C>A (TTN) | ENSP00000465570.1:p.Gly30069= | |
| ENST00000615779.4:c.90207C>A (TTN) | ENSP00000483597.1:p.Gly30069= | |
| NM_001256850.1:c.90207C>A (TTN) | NP_001243779.1:p.Gly30069= | |
| NM_001267550.2:c.95130C>A (TTN) MANE Select | NP_001254479.2:p.Gly31710= | |
| NM_003319.4:c.67935C>A (TTN) | NP_003310.4:p.Gly22645= | |
| NM_133378.4:c.87426C>A (TTN) | NP_596869.4:p.Gly29142= | |
| NM_133432.3:c.68310C>A (TTN) | NP_597676.3:p.Gly22770= | |
| NM_133437.4:c.68511C>A (TTN) | NP_597681.4:p.Gly22837= | |
| NR_038271.1:n.446+22470G>T (TTN-AS1) | ||
| NR_038272.1:n.2043+3745G>T (TTN-AS1) | ||
| XM_011511729.1:c.94227C>A (TTN) | XP_011510031.1:p.Gly31409= | |
| XM_011511730.1:c.68121C>A (TTN) | XP_011510032.1:p.Gly22707= | |
| XM_011511731.1:c.67980C>A (TTN) | XP_011510033.1:p.Gly22660= | |
| XM_017004819.1:c.94023C>A (TTN) | XP_016860308.1:p.Gly31341= | |
| XM_017004820.1:c.89421C>A (TTN) | XP_016860309.1:p.Gly29807= | |
| XM_017004821.1:c.89418C>A (TTN) | XP_016860310.1:p.Gly29806= | |
| XM_017004822.1:c.86460C>A (TTN) | XP_016860311.1:p.Gly28820= | |
| XM_017004823.1:c.68076C>A (TTN) | XP_016860312.1:p.Gly22692= | |
| XM_024453094.1:c.89571C>A (TTN) | XP_024308862.1:p.Gly29857= | |
| XM_024453095.1:c.89568C>A (TTN) | XP_024308863.1:p.Gly29856= | |
| XM_024453096.1:c.89001C>A (TTN) | XP_024308864.1:p.Gly29667= | |
| XM_024453097.1:c.86343C>A (TTN) | XP_024308865.1:p.Gly28781= | |
| XM_024453098.1:c.86262C>A (TTN) | XP_024308866.1:p.Gly28754= | |
| XM_024453099.1:c.68025C>A (TTN) | XP_024308867.1:p.Gly22675= | |
| XM_024453100.1:c.57879C>A (TTN) | XP_024308868.1:p.Gly19293= |