Linked Data
ClinVar Variation Id:
229554
dbSNP Id:
rs55915651
ExAC:
2:179407087 C / T
gnomAD v2:
2-179407087-C-T
gnomAD v3:
2-178542360-C-T
gnomAD v4:
2-178542360-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542360C>T , CM000664.2:g.178542360C>T | GRCh38 |
| NC_000002.11:g.179407087C>T , CM000664.1:g.179407087C>T | GRCh37 |
| NC_000002.10:g.179115333C>T | NCBI36 |
| NG_011618.3:g.293443G>A , LRG_391:g.293443G>A | |
| NG_051363.1:g.24534C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89692G>A (TTN) | ENSP00000343764.6:p.Glu29898Lys | |
| ENST00000342175.11:c.70777G>A (TTN) | ENSP00000340554.6:p.Glu23593Lys | |
| ENST00000359218.10:c.70576G>A (TTN) | ENSP00000352154.5:p.Glu23526Lys | |
| ENST00000342175.10:c.70777G>A (TTN) | ENSP00000340554.6:p.Glu23593Lys | |
| ENST00000342992.10:c.89692G>A (TTN) | ENSP00000343764.6:p.Glu29898Lys | |
| ENST00000359218.9:c.70576G>A (TTN) | ENSP00000352154.5:p.Glu23526Lys | |
| ENST00000460472.6:c.70201G>A (TTN) | ENSP00000434586.1:p.Glu23401Lys | |
| ENST00000589042.5:c.97396G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu32466Lys | |
| ENST00000591111.5:c.92473G>A (TTN) | ENSP00000465570.1:p.Glu30825Lys | |
| ENST00000615779.4:c.92473G>A (TTN) | ENSP00000483597.1:p.Glu30825Lys | |
| NM_001256850.1:c.92473G>A (TTN) | NP_001243779.1:p.Glu30825Lys | |
| NM_001267550.2:c.97396G>A (TTN) MANE Select | NP_001254479.2:p.Glu32466Lys | |
| NM_003319.4:c.70201G>A (TTN) | NP_003310.4:p.Glu23401Lys | |
| NM_133378.4:c.89692G>A (TTN) | NP_596869.4:p.Glu29898Lys | |
| NM_133432.3:c.70576G>A (TTN) | NP_597676.3:p.Glu23526Lys | |
| NM_133437.4:c.70777G>A (TTN) | NP_597681.4:p.Glu23593Lys | |
| NR_038271.1:n.446+18724C>T (TTN-AS1) | ||
| NR_038272.1:n.2042C>T (TTN-AS1) | ||
| XM_011511729.1:c.96493G>A (TTN) | XP_011510031.1:p.Glu32165Lys | |
| XM_011511730.1:c.70387G>A (TTN) | XP_011510032.1:p.Glu23463Lys | |
| XM_011511731.1:c.70246G>A (TTN) | XP_011510033.1:p.Glu23416Lys | |
| XM_017004819.1:c.96289G>A (TTN) | XP_016860308.1:p.Glu32097Lys | |
| XM_017004820.1:c.91687G>A (TTN) | XP_016860309.1:p.Glu30563Lys | |
| XM_017004821.1:c.91684G>A (TTN) | XP_016860310.1:p.Glu30562Lys | |
| XM_017004822.1:c.88726G>A (TTN) | XP_016860311.1:p.Glu29576Lys | |
| XM_017004823.1:c.70342G>A (TTN) | XP_016860312.1:p.Glu23448Lys | |
| XM_024453094.1:c.91837G>A (TTN) | XP_024308862.1:p.Glu30613Lys | |
| XM_024453095.1:c.91834G>A (TTN) | XP_024308863.1:p.Glu30612Lys | |
| XM_024453096.1:c.91267G>A (TTN) | XP_024308864.1:p.Glu30423Lys | |
| XM_024453097.1:c.88609G>A (TTN) | XP_024308865.1:p.Glu29537Lys | |
| XM_024453098.1:c.88528G>A (TTN) | XP_024308866.1:p.Glu29510Lys | |
| XM_024453099.1:c.70291G>A (TTN) | XP_024308867.1:p.Glu23431Lys | |
| XM_024453100.1:c.60145G>A (TTN) | XP_024308868.1:p.Glu20049Lys |