Linked Data
ClinVar Variation Id:
285106
dbSNP Id:
rs775673876
ExAC:
2:179428320 G / A
gnomAD v2:
2-179428320-G-A
gnomAD v4:
2-178563593-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563593G>A , CM000664.2:g.178563593G>A | GRCh38 |
| NC_000002.11:g.179428320G>A , CM000664.1:g.179428320G>A | GRCh37 |
| NC_000002.10:g.179136566G>A | NCBI36 |
| NG_011618.3:g.272210C>T , LRG_391:g.272210C>T | |
| NG_051363.1:g.45767G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.74835C>T (TTN) | ENSP00000343764.6:p.Gly24945= | |
| ENST00000342175.11:c.55920C>T (TTN) | ENSP00000340554.6:p.Gly18640= | |
| ENST00000359218.10:c.55719C>T (TTN) | ENSP00000352154.5:p.Gly18573= | |
| ENST00000342175.10:c.55920C>T (TTN) | ENSP00000340554.6:p.Gly18640= | |
| ENST00000342992.10:c.74835C>T (TTN) | ENSP00000343764.6:p.Gly24945= | |
| ENST00000359218.9:c.55719C>T (TTN) | ENSP00000352154.5:p.Gly18573= | |
| ENST00000460472.6:c.55344C>T (TTN) | ENSP00000434586.1:p.Gly18448= | |
| ENST00000589042.5:c.82539C>T (TTN) MANE Select | ENSP00000467141.1:p.Gly27513= | |
| ENST00000591111.5:c.77616C>T (TTN) | ENSP00000465570.1:p.Gly25872= | |
| ENST00000615779.4:c.77616C>T (TTN) | ENSP00000483597.1:p.Gly25872= | |
| NM_001256850.1:c.77616C>T (TTN) | NP_001243779.1:p.Gly25872= | |
| NM_001267550.2:c.82539C>T (TTN) MANE Select | NP_001254479.2:p.Gly27513= | |
| NM_003319.4:c.55344C>T (TTN) | NP_003310.4:p.Gly18448= | |
| NM_133378.4:c.74835C>T (TTN) | NP_596869.4:p.Gly24945= | |
| NM_133432.3:c.55719C>T (TTN) | NP_597676.3:p.Gly18573= | |
| NM_133437.4:c.55920C>T (TTN) | NP_597681.4:p.Gly18640= | |
| NR_038271.1:n.447-7707G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-18979G>A (TTN-AS1) | ||
| XM_011511729.1:c.81636C>T (TTN) | XP_011510031.1:p.Gly27212= | |
| XM_011511730.1:c.55530C>T (TTN) | XP_011510032.1:p.Gly18510= | |
| XM_011511731.1:c.55389C>T (TTN) | XP_011510033.1:p.Gly18463= | |
| XM_017004819.1:c.81432C>T (TTN) | XP_016860308.1:p.Gly27144= | |
| XM_017004820.1:c.76830C>T (TTN) | XP_016860309.1:p.Gly25610= | |
| XM_017004821.1:c.76827C>T (TTN) | XP_016860310.1:p.Gly25609= | |
| XM_017004822.1:c.73869C>T (TTN) | XP_016860311.1:p.Gly24623= | |
| XM_017004823.1:c.55485C>T (TTN) | XP_016860312.1:p.Gly18495= | |
| XM_024453094.1:c.76980C>T (TTN) | XP_024308862.1:p.Gly25660= | |
| XM_024453095.1:c.76977C>T (TTN) | XP_024308863.1:p.Gly25659= | |
| XM_024453096.1:c.76410C>T (TTN) | XP_024308864.1:p.Gly25470= | |
| XM_024453097.1:c.73752C>T (TTN) | XP_024308865.1:p.Gly24584= | |
| XM_024453098.1:c.73671C>T (TTN) | XP_024308866.1:p.Gly24557= | |
| XM_024453099.1:c.55434C>T (TTN) | XP_024308867.1:p.Gly18478= | |
| XM_024453100.1:c.45288C>T (TTN) | XP_024308868.1:p.Gly15096= |