Linked Data
ClinVar Variation Id:
203085
dbSNP Id:
rs563430855
ExAC:
2:179396737 C / T
gnomAD v2:
2-179396737-C-T
gnomAD v3:
2-178532010-C-T
gnomAD v4:
2-178532010-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532010C>T , CM000664.2:g.178532010C>T | GRCh38 |
| NC_000002.11:g.179396737C>T , CM000664.1:g.179396737C>T | GRCh37 |
| NC_000002.10:g.179104983C>T | NCBI36 |
| NG_011618.3:g.303793G>A , LRG_391:g.303793G>A | |
| NG_051363.1:g.14184C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96901G>A (TTN) | ENSP00000343764.6:p.Glu32301Lys | |
| ENST00000342175.11:c.77986G>A (TTN) | ENSP00000340554.6:p.Glu25996Lys | |
| ENST00000359218.10:c.77785G>A (TTN) | ENSP00000352154.5:p.Glu25929Lys | |
| ENST00000342175.10:c.77986G>A (TTN) | ENSP00000340554.6:p.Glu25996Lys | |
| ENST00000342992.10:c.96901G>A (TTN) | ENSP00000343764.6:p.Glu32301Lys | |
| ENST00000359218.9:c.77785G>A (TTN) | ENSP00000352154.5:p.Glu25929Lys | |
| ENST00000460472.6:c.77410G>A (TTN) | ENSP00000434586.1:p.Glu25804Lys | |
| ENST00000589042.5:c.104605G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu34869Lys | |
| ENST00000591111.5:c.99682G>A (TTN) | ENSP00000465570.1:p.Glu33228Lys | |
| ENST00000615779.4:c.99682G>A (TTN) | ENSP00000483597.1:p.Glu33228Lys | |
| NM_001256850.1:c.99682G>A (TTN) | NP_001243779.1:p.Glu33228Lys | |
| NM_001267550.2:c.104605G>A (TTN) MANE Select | NP_001254479.2:p.Glu34869Lys | |
| NM_003319.4:c.77410G>A (TTN) | NP_003310.4:p.Glu25804Lys | |
| NM_133378.4:c.96901G>A (TTN) | NP_596869.4:p.Glu32301Lys | |
| NM_133432.3:c.77785G>A (TTN) | NP_597676.3:p.Glu25929Lys | |
| NM_133437.4:c.77986G>A (TTN) | NP_597681.4:p.Glu25996Lys | |
| NR_038271.1:n.446+8374C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3722C>T (TTN-AS1) | ||
| XM_011511729.1:c.103702G>A (TTN) | XP_011510031.1:p.Glu34568Lys | |
| XM_011511730.1:c.77596G>A (TTN) | XP_011510032.1:p.Glu25866Lys | |
| XM_011511731.1:c.77455G>A (TTN) | XP_011510033.1:p.Glu25819Lys | |
| XM_017004819.1:c.103498G>A (TTN) | XP_016860308.1:p.Glu34500Lys | |
| XM_017004820.1:c.98896G>A (TTN) | XP_016860309.1:p.Glu32966Lys | |
| XM_017004821.1:c.98893G>A (TTN) | XP_016860310.1:p.Glu32965Lys | |
| XM_017004822.1:c.95935G>A (TTN) | XP_016860311.1:p.Glu31979Lys | |
| XM_017004823.1:c.77551G>A (TTN) | XP_016860312.1:p.Glu25851Lys | |
| XM_024453094.1:c.99046G>A (TTN) | XP_024308862.1:p.Glu33016Lys | |
| XM_024453095.1:c.99043G>A (TTN) | XP_024308863.1:p.Glu33015Lys | |
| XM_024453096.1:c.98476G>A (TTN) | XP_024308864.1:p.Glu32826Lys | |
| XM_024453097.1:c.95818G>A (TTN) | XP_024308865.1:p.Glu31940Lys | |
| XM_024453098.1:c.95737G>A (TTN) | XP_024308866.1:p.Glu31913Lys | |
| XM_024453099.1:c.77500G>A (TTN) | XP_024308867.1:p.Glu25834Lys | |
| XM_024453100.1:c.67354G>A (TTN) | XP_024308868.1:p.Glu22452Lys |