Linked Data
ClinVar Variation Id:
192164
dbSNP Id:
rs369440319
ExAC:
2:179460273 C / G
gnomAD v2:
2-179460273-C-G
gnomAD v3:
2-178595546-C-G
gnomAD v4:
2-178595546-C-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178595546C>G , CM000664.2:g.178595546C>G | GRCh38 |
| NC_000002.11:g.179460273C>G , CM000664.1:g.179460273C>G | GRCh37 |
| NC_000002.10:g.179168519C>G | NCBI36 |
| NG_011618.3:g.240257G>C , LRG_391:g.240257G>C | |
| NG_051363.1:g.77720C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50104G>C (TTN) | ENSP00000343764.6:p.Val16702Leu | |
| ENST00000342175.11:c.31189G>C (TTN) | ENSP00000340554.6:p.Val10397Leu | |
| ENST00000359218.10:c.30988G>C (TTN) | ENSP00000352154.5:p.Val10330Leu | |
| ENST00000342175.10:c.31189G>C (TTN) | ENSP00000340554.6:p.Val10397Leu | |
| ENST00000342992.10:c.50104G>C (TTN) | ENSP00000343764.6:p.Val16702Leu | |
| ENST00000359218.9:c.30988G>C (TTN) | ENSP00000352154.5:p.Val10330Leu | |
| ENST00000460472.6:c.30613G>C (TTN) | ENSP00000434586.1:p.Val10205Leu | |
| ENST00000589042.5:c.57808G>C (TTN) MANE Select | ENSP00000467141.1:p.Val19270Leu | |
| ENST00000591111.5:c.52885G>C (TTN) | ENSP00000465570.1:p.Val17629Leu | |
| ENST00000615779.4:c.52885G>C (TTN) | ENSP00000483597.1:p.Val17629Leu | |
| NM_001256850.1:c.52885G>C (TTN) | NP_001243779.1:p.Val17629Leu | |
| NM_001267550.2:c.57808G>C (TTN) MANE Select | NP_001254479.2:p.Val19270Leu | |
| NM_003319.4:c.30613G>C (TTN) | NP_003310.4:p.Val10205Leu | |
| NM_133378.4:c.50104G>C (TTN) | NP_596869.4:p.Val16702Leu | |
| NM_133432.3:c.30988G>C (TTN) | NP_597676.3:p.Val10330Leu | |
| NM_133437.4:c.31189G>C (TTN) | NP_597681.4:p.Val10397Leu | |
| NR_038271.1:n.597-2050C>G (TTN-AS1) | ||
| NR_038272.1:n.3365-2050C>G (TTN-AS1) | ||
| XM_011511729.1:c.56905G>C (TTN) | XP_011510031.1:p.Val18969Leu | |
| XM_011511730.1:c.30799G>C (TTN) | XP_011510032.1:p.Val10267Leu | |
| XM_011511731.1:c.30658G>C (TTN) | XP_011510033.1:p.Val10220Leu | |
| XM_017004819.1:c.56701G>C (TTN) | XP_016860308.1:p.Val18901Leu | |
| XM_017004820.1:c.52099G>C (TTN) | XP_016860309.1:p.Val17367Leu | |
| XM_017004821.1:c.52096G>C (TTN) | XP_016860310.1:p.Val17366Leu | |
| XM_017004822.1:c.49138G>C (TTN) | XP_016860311.1:p.Val16380Leu | |
| XM_017004823.1:c.30754G>C (TTN) | XP_016860312.1:p.Val10252Leu | |
| XM_024453094.1:c.52249G>C (TTN) | XP_024308862.1:p.Val17417Leu | |
| XM_024453095.1:c.52246G>C (TTN) | XP_024308863.1:p.Val17416Leu | |
| XM_024453096.1:c.51679G>C (TTN) | XP_024308864.1:p.Val17227Leu | |
| XM_024453097.1:c.49021G>C (TTN) | XP_024308865.1:p.Val16341Leu | |
| XM_024453098.1:c.48940G>C (TTN) | XP_024308866.1:p.Val16314Leu | |
| XM_024453099.1:c.30703G>C (TTN) | XP_024308867.1:p.Val10235Leu | |
| XM_024453100.1:c.20557G>C (TTN) | XP_024308868.1:p.Val6853Leu |