Linked Data
ClinVar Variation Id:
332752
dbSNP Id:
rs886055236
gnomAD v2:
2-179427032-C-T
gnomAD v3:
2-178562305-C-T
gnomAD v4:
2-178562305-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562305C>T , CM000664.2:g.178562305C>T | GRCh38 |
| NC_000002.11:g.179427032C>T , CM000664.1:g.179427032C>T | GRCh37 |
| NC_000002.10:g.179135278C>T | NCBI36 |
| NG_011618.3:g.273498G>A , LRG_391:g.273498G>A | |
| NG_051363.1:g.44479C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.76123G>A (TTN) | ENSP00000343764.6:p.Gly25375Arg | |
| ENST00000342175.11:c.57208G>A (TTN) | ENSP00000340554.6:p.Gly19070Arg | |
| ENST00000359218.10:c.57007G>A (TTN) | ENSP00000352154.5:p.Gly19003Arg | |
| ENST00000342175.10:c.57208G>A (TTN) | ENSP00000340554.6:p.Gly19070Arg | |
| ENST00000342992.10:c.76123G>A (TTN) | ENSP00000343764.6:p.Gly25375Arg | |
| ENST00000359218.9:c.57007G>A (TTN) | ENSP00000352154.5:p.Gly19003Arg | |
| ENST00000460472.6:c.56632G>A (TTN) | ENSP00000434586.1:p.Gly18878Arg | |
| ENST00000589042.5:c.83827G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly27943Arg | |
| ENST00000591111.5:c.78904G>A (TTN) | ENSP00000465570.1:p.Gly26302Arg | |
| ENST00000615779.4:c.78904G>A (TTN) | ENSP00000483597.1:p.Gly26302Arg | |
| NM_001256850.1:c.78904G>A (TTN) | NP_001243779.1:p.Gly26302Arg | |
| NM_001267550.2:c.83827G>A (TTN) MANE Select | NP_001254479.2:p.Gly27943Arg | |
| NM_003319.4:c.56632G>A (TTN) | NP_003310.4:p.Gly18878Arg | |
| NM_133378.4:c.76123G>A (TTN) | NP_596869.4:p.Gly25375Arg | |
| NM_133432.3:c.57007G>A (TTN) | NP_597676.3:p.Gly19003Arg | |
| NM_133437.4:c.57208G>A (TTN) | NP_597681.4:p.Gly19070Arg | |
| NR_038271.1:n.447-8995C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+19944C>T (TTN-AS1) | ||
| XM_011511729.1:c.82924G>A (TTN) | XP_011510031.1:p.Gly27642Arg | |
| XM_011511730.1:c.56818G>A (TTN) | XP_011510032.1:p.Gly18940Arg | |
| XM_011511731.1:c.56677G>A (TTN) | XP_011510033.1:p.Gly18893Arg | |
| XM_017004819.1:c.82720G>A (TTN) | XP_016860308.1:p.Gly27574Arg | |
| XM_017004820.1:c.78118G>A (TTN) | XP_016860309.1:p.Gly26040Arg | |
| XM_017004821.1:c.78115G>A (TTN) | XP_016860310.1:p.Gly26039Arg | |
| XM_017004822.1:c.75157G>A (TTN) | XP_016860311.1:p.Gly25053Arg | |
| XM_017004823.1:c.56773G>A (TTN) | XP_016860312.1:p.Gly18925Arg | |
| XM_024453094.1:c.78268G>A (TTN) | XP_024308862.1:p.Gly26090Arg | |
| XM_024453095.1:c.78265G>A (TTN) | XP_024308863.1:p.Gly26089Arg | |
| XM_024453096.1:c.77698G>A (TTN) | XP_024308864.1:p.Gly25900Arg | |
| XM_024453097.1:c.75040G>A (TTN) | XP_024308865.1:p.Gly25014Arg | |
| XM_024453098.1:c.74959G>A (TTN) | XP_024308866.1:p.Gly24987Arg | |
| XM_024453099.1:c.56722G>A (TTN) | XP_024308867.1:p.Gly18908Arg | |
| XM_024453100.1:c.46576G>A (TTN) | XP_024308868.1:p.Gly15526Arg |