Linked Data
ClinVar Variation Id:
404669
dbSNP Id:
rs530959653
ExAC:
2:179397217 G / A
gnomAD v2:
2-179397217-G-A
gnomAD v3:
2-178532490-G-A
gnomAD v4:
2-178532490-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532490G>A , CM000664.2:g.178532490G>A | GRCh38 |
| NC_000002.11:g.179397217G>A , CM000664.1:g.179397217G>A | GRCh37 |
| NC_000002.10:g.179105463G>A | NCBI36 |
| NG_011618.3:g.303313C>T , LRG_391:g.303313C>T | |
| NG_051363.1:g.14664G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96421C>T (TTN) | ENSP00000343764.6:p.Arg32141Cys | |
| ENST00000342175.11:c.77506C>T (TTN) | ENSP00000340554.6:p.Arg25836Cys | |
| ENST00000359218.10:c.77305C>T (TTN) | ENSP00000352154.5:p.Arg25769Cys | |
| ENST00000342175.10:c.77506C>T (TTN) | ENSP00000340554.6:p.Arg25836Cys | |
| ENST00000342992.10:c.96421C>T (TTN) | ENSP00000343764.6:p.Arg32141Cys | |
| ENST00000359218.9:c.77305C>T (TTN) | ENSP00000352154.5:p.Arg25769Cys | |
| ENST00000460472.6:c.76930C>T (TTN) | ENSP00000434586.1:p.Arg25644Cys | |
| ENST00000589042.5:c.104125C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg34709Cys | |
| ENST00000591111.5:c.99202C>T (TTN) | ENSP00000465570.1:p.Arg33068Cys | |
| ENST00000615779.4:c.99202C>T (TTN) | ENSP00000483597.1:p.Arg33068Cys | |
| NM_001256850.1:c.99202C>T (TTN) | NP_001243779.1:p.Arg33068Cys | |
| NM_001267550.2:c.104125C>T (TTN) MANE Select | NP_001254479.2:p.Arg34709Cys | |
| NM_003319.4:c.76930C>T (TTN) | NP_003310.4:p.Arg25644Cys | |
| NM_133378.4:c.96421C>T (TTN) | NP_596869.4:p.Arg32141Cys | |
| NM_133432.3:c.77305C>T (TTN) | NP_597676.3:p.Arg25769Cys | |
| NM_133437.4:c.77506C>T (TTN) | NP_597681.4:p.Arg25836Cys | |
| NR_038271.1:n.446+8854G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3242G>A (TTN-AS1) | ||
| XM_011511729.1:c.103222C>T (TTN) | XP_011510031.1:p.Arg34408Cys | |
| XM_011511730.1:c.77116C>T (TTN) | XP_011510032.1:p.Arg25706Cys | |
| XM_011511731.1:c.76975C>T (TTN) | XP_011510033.1:p.Arg25659Cys | |
| XM_017004819.1:c.103018C>T (TTN) | XP_016860308.1:p.Arg34340Cys | |
| XM_017004820.1:c.98416C>T (TTN) | XP_016860309.1:p.Arg32806Cys | |
| XM_017004821.1:c.98413C>T (TTN) | XP_016860310.1:p.Arg32805Cys | |
| XM_017004822.1:c.95455C>T (TTN) | XP_016860311.1:p.Arg31819Cys | |
| XM_017004823.1:c.77071C>T (TTN) | XP_016860312.1:p.Arg25691Cys | |
| XM_024453094.1:c.98566C>T (TTN) | XP_024308862.1:p.Arg32856Cys | |
| XM_024453095.1:c.98563C>T (TTN) | XP_024308863.1:p.Arg32855Cys | |
| XM_024453096.1:c.97996C>T (TTN) | XP_024308864.1:p.Arg32666Cys | |
| XM_024453097.1:c.95338C>T (TTN) | XP_024308865.1:p.Arg31780Cys | |
| XM_024453098.1:c.95257C>T (TTN) | XP_024308866.1:p.Arg31753Cys | |
| XM_024453099.1:c.77020C>T (TTN) | XP_024308867.1:p.Arg25674Cys | |
| XM_024453100.1:c.66874C>T (TTN) | XP_024308868.1:p.Arg22292Cys |