Linked Data
ClinVar Variation Id:
47393
ClinVar RCV Id:
RCV000040663
RCV000617992
RCV000726121
RCV001132747
RCV001132749
RCV001136159
RCV001079917
RCV001132748
RCV001798182
RCV001136160
dbSNP Id:
rs397517719
ExAC:
2:179429876 C / T
gnomAD v2:
2-179429876-C-T
gnomAD v3:
2-178565149-C-T
gnomAD v4:
2-178565149-C-T
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178565149C>T , CM000664.2:g.178565149C>T | GRCh38 |
| NC_000002.11:g.179429876C>T , CM000664.1:g.179429876C>T | GRCh37 |
| NC_000002.10:g.179138122C>T | NCBI36 |
| NG_011618.3:g.270654G>A , LRG_391:g.270654G>A | |
| NG_051363.1:g.47323C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73279G>A (TTN) | ENSP00000343764.6:p.Glu24427Lys | |
| ENST00000342175.11:c.54364G>A (TTN) | ENSP00000340554.6:p.Glu18122Lys | |
| ENST00000359218.10:c.54163G>A (TTN) | ENSP00000352154.5:p.Glu18055Lys | |
| ENST00000342175.10:c.54364G>A (TTN) | ENSP00000340554.6:p.Glu18122Lys | |
| ENST00000342992.10:c.73279G>A (TTN) | ENSP00000343764.6:p.Glu24427Lys | |
| ENST00000359218.9:c.54163G>A (TTN) | ENSP00000352154.5:p.Glu18055Lys | |
| ENST00000460472.6:c.53788G>A (TTN) | ENSP00000434586.1:p.Glu17930Lys | |
| ENST00000589042.5:c.80983G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu26995Lys | |
| ENST00000591111.5:c.76060G>A (TTN) | ENSP00000465570.1:p.Glu25354Lys | |
| ENST00000615779.4:c.76060G>A (TTN) | ENSP00000483597.1:p.Glu25354Lys | |
| NM_001256850.1:c.76060G>A (TTN) | NP_001243779.1:p.Glu25354Lys | |
| NM_001267550.2:c.80983G>A (TTN) MANE Select | NP_001254479.2:p.Glu26995Lys | |
| NM_003319.4:c.53788G>A (TTN) | NP_003310.4:p.Glu17930Lys | |
| NM_133378.4:c.73279G>A (TTN) | NP_596869.4:p.Glu24427Lys | |
| NM_133432.3:c.54163G>A (TTN) | NP_597676.3:p.Glu18055Lys | |
| NM_133437.4:c.54364G>A (TTN) | NP_597681.4:p.Glu18122Lys | |
| NR_038271.1:n.447-6151C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-17423C>T (TTN-AS1) | ||
| XM_011511729.1:c.80080G>A (TTN) | XP_011510031.1:p.Glu26694Lys | |
| XM_011511730.1:c.53974G>A (TTN) | XP_011510032.1:p.Glu17992Lys | |
| XM_011511731.1:c.53833G>A (TTN) | XP_011510033.1:p.Glu17945Lys | |
| XM_017004819.1:c.79876G>A (TTN) | XP_016860308.1:p.Glu26626Lys | |
| XM_017004820.1:c.75274G>A (TTN) | XP_016860309.1:p.Glu25092Lys | |
| XM_017004821.1:c.75271G>A (TTN) | XP_016860310.1:p.Glu25091Lys | |
| XM_017004822.1:c.72313G>A (TTN) | XP_016860311.1:p.Glu24105Lys | |
| XM_017004823.1:c.53929G>A (TTN) | XP_016860312.1:p.Glu17977Lys | |
| XM_024453094.1:c.75424G>A (TTN) | XP_024308862.1:p.Glu25142Lys | |
| XM_024453095.1:c.75421G>A (TTN) | XP_024308863.1:p.Glu25141Lys | |
| XM_024453096.1:c.74854G>A (TTN) | XP_024308864.1:p.Glu24952Lys | |
| XM_024453097.1:c.72196G>A (TTN) | XP_024308865.1:p.Glu24066Lys | |
| XM_024453098.1:c.72115G>A (TTN) | XP_024308866.1:p.Glu24039Lys | |
| XM_024453099.1:c.53878G>A (TTN) | XP_024308867.1:p.Glu17960Lys | |
| XM_024453100.1:c.43732G>A (TTN) | XP_024308868.1:p.Glu14578Lys |