Linked Data
ClinVar Variation Id:
167768
dbSNP Id:
rs372543652
ExAC:
2:179433807 G / A
gnomAD v2:
2-179433807-G-A
gnomAD v3:
2-178569080-G-A
gnomAD v4:
2-178569080-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569080G>A , CM000664.2:g.178569080G>A | GRCh38 |
| NC_000002.11:g.179433807G>A , CM000664.1:g.179433807G>A | GRCh37 |
| NC_000002.10:g.179142053G>A | NCBI36 |
| NG_011618.3:g.266723C>T , LRG_391:g.266723C>T | |
| NG_051363.1:g.51254G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69348C>T (TTN) | ENSP00000343764.6:p.Gly23116= | |
| ENST00000342175.11:c.50433C>T (TTN) | ENSP00000340554.6:p.Gly16811= | |
| ENST00000359218.10:c.50232C>T (TTN) | ENSP00000352154.5:p.Gly16744= | |
| ENST00000342175.10:c.50433C>T (TTN) | ENSP00000340554.6:p.Gly16811= | |
| ENST00000342992.10:c.69348C>T (TTN) | ENSP00000343764.6:p.Gly23116= | |
| ENST00000359218.9:c.50232C>T (TTN) | ENSP00000352154.5:p.Gly16744= | |
| ENST00000460472.6:c.49857C>T (TTN) | ENSP00000434586.1:p.Gly16619= | |
| ENST00000589042.5:c.77052C>T (TTN) MANE Select | ENSP00000467141.1:p.Gly25684= | |
| ENST00000591111.5:c.72129C>T (TTN) | ENSP00000465570.1:p.Gly24043= | |
| ENST00000615779.4:c.72129C>T (TTN) | ENSP00000483597.1:p.Gly24043= | |
| NM_001256850.1:c.72129C>T (TTN) | NP_001243779.1:p.Gly24043= | |
| NM_001267550.2:c.77052C>T (TTN) MANE Select | NP_001254479.2:p.Gly25684= | |
| NM_003319.4:c.49857C>T (TTN) | NP_003310.4:p.Gly16619= | |
| NM_133378.4:c.69348C>T (TTN) | NP_596869.4:p.Gly23116= | |
| NM_133432.3:c.50232C>T (TTN) | NP_597676.3:p.Gly16744= | |
| NM_133437.4:c.50433C>T (TTN) | NP_597681.4:p.Gly16811= | |
| NR_038271.1:n.447-2220G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-13492G>A (TTN-AS1) | ||
| XM_011511729.1:c.76149C>T (TTN) | XP_011510031.1:p.Gly25383= | |
| XM_011511730.1:c.50043C>T (TTN) | XP_011510032.1:p.Gly16681= | |
| XM_011511731.1:c.49902C>T (TTN) | XP_011510033.1:p.Gly16634= | |
| XM_017004819.1:c.75945C>T (TTN) | XP_016860308.1:p.Gly25315= | |
| XM_017004820.1:c.71343C>T (TTN) | XP_016860309.1:p.Gly23781= | |
| XM_017004821.1:c.71340C>T (TTN) | XP_016860310.1:p.Gly23780= | |
| XM_017004822.1:c.68382C>T (TTN) | XP_016860311.1:p.Gly22794= | |
| XM_017004823.1:c.49998C>T (TTN) | XP_016860312.1:p.Gly16666= | |
| XM_024453094.1:c.71493C>T (TTN) | XP_024308862.1:p.Gly23831= | |
| XM_024453095.1:c.71490C>T (TTN) | XP_024308863.1:p.Gly23830= | |
| XM_024453096.1:c.70923C>T (TTN) | XP_024308864.1:p.Gly23641= | |
| XM_024453097.1:c.68265C>T (TTN) | XP_024308865.1:p.Gly22755= | |
| XM_024453098.1:c.68184C>T (TTN) | XP_024308866.1:p.Gly22728= | |
| XM_024453099.1:c.49947C>T (TTN) | XP_024308867.1:p.Gly16649= | |
| XM_024453100.1:c.39801C>T (TTN) | XP_024308868.1:p.Gly13267= |