Linked Data
ClinVar Variation Id:
2933599
ClinVar RCV Id:
RCV003793157
dbSNP Id:
rs1688663690
gnomAD v3:
2-178530564-C-T
gnomAD v4:
2-178530564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530564C>T , CM000664.2:g.178530564C>T | GRCh38 |
| NC_000002.11:g.179395291C>T , CM000664.1:g.179395291C>T | GRCh37 |
| NC_000002.10:g.179103537C>T | NCBI36 |
| NG_011618.3:g.305239G>A , LRG_391:g.305239G>A | |
| NG_051363.1:g.12738C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98347G>A (TTN) | ENSP00000343764.6:p.Glu32783Lys | |
| ENST00000342175.11:c.79432G>A (TTN) | ENSP00000340554.6:p.Glu26478Lys | |
| ENST00000359218.10:c.79231G>A (TTN) | ENSP00000352154.5:p.Glu26411Lys | |
| ENST00000342175.10:c.79432G>A (TTN) | ENSP00000340554.6:p.Glu26478Lys | |
| ENST00000342992.10:c.98347G>A (TTN) | ENSP00000343764.6:p.Glu32783Lys | |
| ENST00000359218.9:c.79231G>A (TTN) | ENSP00000352154.5:p.Glu26411Lys | |
| ENST00000460472.6:c.78856G>A (TTN) | ENSP00000434586.1:p.Glu26286Lys | |
| ENST00000589042.5:c.106051G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu35351Lys | |
| ENST00000591111.5:c.101128G>A (TTN) | ENSP00000465570.1:p.Glu33710Lys | |
| ENST00000615779.4:c.101128G>A (TTN) | ENSP00000483597.1:p.Glu33710Lys | |
| NM_001256850.1:c.101128G>A (TTN) | NP_001243779.1:p.Glu33710Lys | |
| NM_001267550.2:c.106051G>A (TTN) MANE Select | NP_001254479.2:p.Glu35351Lys | |
| NM_003319.4:c.78856G>A (TTN) | NP_003310.4:p.Glu26286Lys | |
| NM_133378.4:c.98347G>A (TTN) | NP_596869.4:p.Glu32783Lys | |
| NM_133432.3:c.79231G>A (TTN) | NP_597676.3:p.Glu26411Lys | |
| NM_133437.4:c.79432G>A (TTN) | NP_597681.4:p.Glu26478Lys | |
| NR_038271.1:n.446+6928C>T (TTN-AS1) | ||
| NR_038272.1:n.220-5168C>T (TTN-AS1) | ||
| XM_011511729.1:c.105148G>A (TTN) | XP_011510031.1:p.Glu35050Lys | |
| XM_011511730.1:c.79042G>A (TTN) | XP_011510032.1:p.Glu26348Lys | |
| XM_011511731.1:c.78901G>A (TTN) | XP_011510033.1:p.Glu26301Lys | |
| XM_017004819.1:c.104944G>A (TTN) | XP_016860308.1:p.Glu34982Lys | |
| XM_017004820.1:c.100342G>A (TTN) | XP_016860309.1:p.Glu33448Lys | |
| XM_017004821.1:c.100339G>A (TTN) | XP_016860310.1:p.Glu33447Lys | |
| XM_017004822.1:c.97381G>A (TTN) | XP_016860311.1:p.Glu32461Lys | |
| XM_017004823.1:c.78997G>A (TTN) | XP_016860312.1:p.Glu26333Lys | |
| XM_024453094.1:c.100492G>A (TTN) | XP_024308862.1:p.Glu33498Lys | |
| XM_024453095.1:c.100489G>A (TTN) | XP_024308863.1:p.Glu33497Lys | |
| XM_024453096.1:c.99922G>A (TTN) | XP_024308864.1:p.Glu33308Lys | |
| XM_024453097.1:c.97264G>A (TTN) | XP_024308865.1:p.Glu32422Lys | |
| XM_024453098.1:c.97183G>A (TTN) | XP_024308866.1:p.Glu32395Lys | |
| XM_024453099.1:c.78946G>A (TTN) | XP_024308867.1:p.Glu26316Lys | |
| XM_024453100.1:c.68800G>A (TTN) | XP_024308868.1:p.Glu22934Lys |