Linked Data
ClinVar Variation Id:
212475
dbSNP Id:
rs371973579
ExAC:
2:179459149 G / A
gnomAD v2:
2-179459149-G-A
gnomAD v3:
2-178594422-G-A
gnomAD v4:
2-178594422-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178594422G>A , CM000664.2:g.178594422G>A | GRCh38 |
| NC_000002.11:g.179459149G>A , CM000664.1:g.179459149G>A | GRCh37 |
| NC_000002.10:g.179167395G>A | NCBI36 |
| NG_011618.3:g.241381C>T , LRG_391:g.241381C>T | |
| NG_051363.1:g.76596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50368C>T (TTN) | ENSP00000343764.6:p.Arg16790Cys | |
| ENST00000342175.11:c.31453C>T (TTN) | ENSP00000340554.6:p.Arg10485Cys | |
| ENST00000359218.10:c.31252C>T (TTN) | ENSP00000352154.5:p.Arg10418Cys | |
| ENST00000342175.10:c.31453C>T (TTN) | ENSP00000340554.6:p.Arg10485Cys | |
| ENST00000342992.10:c.50368C>T (TTN) | ENSP00000343764.6:p.Arg16790Cys | |
| ENST00000359218.9:c.31252C>T (TTN) | ENSP00000352154.5:p.Arg10418Cys | |
| ENST00000460472.6:c.30877C>T (TTN) | ENSP00000434586.1:p.Arg10293Cys | |
| ENST00000589042.5:c.58072C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg19358Cys | |
| ENST00000591111.5:c.53149C>T (TTN) | ENSP00000465570.1:p.Arg17717Cys | |
| ENST00000615779.4:c.53149C>T (TTN) | ENSP00000483597.1:p.Arg17717Cys | |
| NM_001256850.1:c.53149C>T (TTN) | NP_001243779.1:p.Arg17717Cys | |
| NM_001267550.2:c.58072C>T (TTN) MANE Select | NP_001254479.2:p.Arg19358Cys | |
| NM_003319.4:c.30877C>T (TTN) | NP_003310.4:p.Arg10293Cys | |
| NM_133378.4:c.50368C>T (TTN) | NP_596869.4:p.Arg16790Cys | |
| NM_133432.3:c.31252C>T (TTN) | NP_597676.3:p.Arg10418Cys | |
| NM_133437.4:c.31453C>T (TTN) | NP_597681.4:p.Arg10485Cys | |
| NR_038271.1:n.597-3174G>A (TTN-AS1) | ||
| NR_038272.1:n.3364+3108G>A (TTN-AS1) | ||
| XM_011511729.1:c.57169C>T (TTN) | XP_011510031.1:p.Arg19057Cys | |
| XM_011511730.1:c.31063C>T (TTN) | XP_011510032.1:p.Arg10355Cys | |
| XM_011511731.1:c.30922C>T (TTN) | XP_011510033.1:p.Arg10308Cys | |
| XM_017004819.1:c.56965C>T (TTN) | XP_016860308.1:p.Arg18989Cys | |
| XM_017004820.1:c.52363C>T (TTN) | XP_016860309.1:p.Arg17455Cys | |
| XM_017004821.1:c.52360C>T (TTN) | XP_016860310.1:p.Arg17454Cys | |
| XM_017004822.1:c.49402C>T (TTN) | XP_016860311.1:p.Arg16468Cys | |
| XM_017004823.1:c.31018C>T (TTN) | XP_016860312.1:p.Arg10340Cys | |
| XM_024453094.1:c.52513C>T (TTN) | XP_024308862.1:p.Arg17505Cys | |
| XM_024453095.1:c.52510C>T (TTN) | XP_024308863.1:p.Arg17504Cys | |
| XM_024453096.1:c.51943C>T (TTN) | XP_024308864.1:p.Arg17315Cys | |
| XM_024453097.1:c.49285C>T (TTN) | XP_024308865.1:p.Arg16429Cys | |
| XM_024453098.1:c.49204C>T (TTN) | XP_024308866.1:p.Arg16402Cys | |
| XM_024453099.1:c.30967C>T (TTN) | XP_024308867.1:p.Arg10323Cys | |
| XM_024453100.1:c.20821C>T (TTN) | XP_024308868.1:p.Arg6941Cys |