Linked Data
ClinVar Variation Id:
202981
dbSNP Id:
rs775591945
ExAC:
2:179415859 G / A
gnomAD v2:
2-179415859-G-A
gnomAD v3:
2-178551132-G-A
gnomAD v4:
2-178551132-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551132G>A , CM000664.2:g.178551132G>A | GRCh38 |
| NC_000002.11:g.179415859G>A , CM000664.1:g.179415859G>A | GRCh37 |
| NC_000002.10:g.179124105G>A | NCBI36 |
| NG_011618.3:g.284671C>T , LRG_391:g.284671C>T | |
| NG_051363.1:g.33306G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.83695C>T (TTN) | ENSP00000343764.6:p.Arg27899Cys | |
| ENST00000342175.11:c.64780C>T (TTN) | ENSP00000340554.6:p.Arg21594Cys | |
| ENST00000359218.10:c.64579C>T (TTN) | ENSP00000352154.5:p.Arg21527Cys | |
| ENST00000342175.10:c.64780C>T (TTN) | ENSP00000340554.6:p.Arg21594Cys | |
| ENST00000342992.10:c.83695C>T (TTN) | ENSP00000343764.6:p.Arg27899Cys | |
| ENST00000359218.9:c.64579C>T (TTN) | ENSP00000352154.5:p.Arg21527Cys | |
| ENST00000460472.6:c.64204C>T (TTN) | ENSP00000434586.1:p.Arg21402Cys | |
| ENST00000589042.5:c.91399C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg30467Cys | |
| ENST00000591111.5:c.86476C>T (TTN) | ENSP00000465570.1:p.Arg28826Cys | |
| ENST00000615779.4:c.86476C>T (TTN) | ENSP00000483597.1:p.Arg28826Cys | |
| NM_001256850.1:c.86476C>T (TTN) | NP_001243779.1:p.Arg28826Cys | |
| NM_001267550.2:c.91399C>T (TTN) MANE Select | NP_001254479.2:p.Arg30467Cys | |
| NM_003319.4:c.64204C>T (TTN) | NP_003310.4:p.Arg21402Cys | |
| NM_133378.4:c.83695C>T (TTN) | NP_596869.4:p.Arg27899Cys | |
| NM_133432.3:c.64579C>T (TTN) | NP_597676.3:p.Arg21527Cys | |
| NM_133437.4:c.64780C>T (TTN) | NP_597681.4:p.Arg21594Cys | |
| NR_038271.1:n.447-20168G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+8771G>A (TTN-AS1) | ||
| XM_011511729.1:c.90496C>T (TTN) | XP_011510031.1:p.Arg30166Cys | |
| XM_011511730.1:c.64390C>T (TTN) | XP_011510032.1:p.Arg21464Cys | |
| XM_011511731.1:c.64249C>T (TTN) | XP_011510033.1:p.Arg21417Cys | |
| XM_017004819.1:c.90292C>T (TTN) | XP_016860308.1:p.Arg30098Cys | |
| XM_017004820.1:c.85690C>T (TTN) | XP_016860309.1:p.Arg28564Cys | |
| XM_017004821.1:c.85687C>T (TTN) | XP_016860310.1:p.Arg28563Cys | |
| XM_017004822.1:c.82729C>T (TTN) | XP_016860311.1:p.Arg27577Cys | |
| XM_017004823.1:c.64345C>T (TTN) | XP_016860312.1:p.Arg21449Cys | |
| XM_024453094.1:c.85840C>T (TTN) | XP_024308862.1:p.Arg28614Cys | |
| XM_024453095.1:c.85837C>T (TTN) | XP_024308863.1:p.Arg28613Cys | |
| XM_024453096.1:c.85270C>T (TTN) | XP_024308864.1:p.Arg28424Cys | |
| XM_024453097.1:c.82612C>T (TTN) | XP_024308865.1:p.Arg27538Cys | |
| XM_024453098.1:c.82531C>T (TTN) | XP_024308866.1:p.Arg27511Cys | |
| XM_024453099.1:c.64294C>T (TTN) | XP_024308867.1:p.Arg21432Cys | |
| XM_024453100.1:c.54148C>T (TTN) | XP_024308868.1:p.Arg18050Cys |