Linked Data
ClinVar Variation Id:
47425
ClinVar RCV Id:
RCV000040694
RCV000247992
RCV000296101
RCV000381205
RCV000350969
RCV000351181
RCV000406850
RCV000993496
RCV001513447
dbSNP Id:
rs3829746
ExAC:
2:179427536 T / C
gnomAD v2:
2-179427536-T-C
gnomAD v3:
2-178562809-T-C
gnomAD v4:
2-178562809-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562809T>C , CM000664.2:g.178562809T>C | GRCh38 |
| NC_000002.11:g.179427536T>C , CM000664.1:g.179427536T>C | GRCh37 |
| NC_000002.10:g.179135782T>C | NCBI36 |
| NG_011618.3:g.272994A>G , LRG_391:g.272994A>G | |
| NG_051363.1:g.44983T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75619A>G (TTN) | ENSP00000343764.6:p.Ile25207Val | |
| ENST00000342175.11:c.56704A>G (TTN) | ENSP00000340554.6:p.Ile18902Val | |
| ENST00000359218.10:c.56503A>G (TTN) | ENSP00000352154.5:p.Ile18835Val | |
| ENST00000342175.10:c.56704A>G (TTN) | ENSP00000340554.6:p.Ile18902Val | |
| ENST00000342992.10:c.75619A>G (TTN) | ENSP00000343764.6:p.Ile25207Val | |
| ENST00000359218.9:c.56503A>G (TTN) | ENSP00000352154.5:p.Ile18835Val | |
| ENST00000460472.6:c.56128A>G (TTN) | ENSP00000434586.1:p.Ile18710Val | |
| ENST00000589042.5:c.83323A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile27775Val | |
| ENST00000591111.5:c.78400A>G (TTN) | ENSP00000465570.1:p.Ile26134Val | |
| ENST00000615779.4:c.78400A>G (TTN) | ENSP00000483597.1:p.Ile26134Val | |
| NM_001256850.1:c.78400A>G (TTN) | NP_001243779.1:p.Ile26134Val | |
| NM_001267550.2:c.83323A>G (TTN) MANE Select | NP_001254479.2:p.Ile27775Val | |
| NM_003319.4:c.56128A>G (TTN) | NP_003310.4:p.Ile18710Val | |
| NM_133378.4:c.75619A>G (TTN) | NP_596869.4:p.Ile25207Val | |
| NM_133432.3:c.56503A>G (TTN) | NP_597676.3:p.Ile18835Val | |
| NM_133437.4:c.56704A>G (TTN) | NP_597681.4:p.Ile18902Val | |
| NR_038271.1:n.447-8491T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-19763T>C (TTN-AS1) | ||
| XM_011511729.1:c.82420A>G (TTN) | XP_011510031.1:p.Ile27474Val | |
| XM_011511730.1:c.56314A>G (TTN) | XP_011510032.1:p.Ile18772Val | |
| XM_011511731.1:c.56173A>G (TTN) | XP_011510033.1:p.Ile18725Val | |
| XM_017004819.1:c.82216A>G (TTN) | XP_016860308.1:p.Ile27406Val | |
| XM_017004820.1:c.77614A>G (TTN) | XP_016860309.1:p.Ile25872Val | |
| XM_017004821.1:c.77611A>G (TTN) | XP_016860310.1:p.Ile25871Val | |
| XM_017004822.1:c.74653A>G (TTN) | XP_016860311.1:p.Ile24885Val | |
| XM_017004823.1:c.56269A>G (TTN) | XP_016860312.1:p.Ile18757Val | |
| XM_024453094.1:c.77764A>G (TTN) | XP_024308862.1:p.Ile25922Val | |
| XM_024453095.1:c.77761A>G (TTN) | XP_024308863.1:p.Ile25921Val | |
| XM_024453096.1:c.77194A>G (TTN) | XP_024308864.1:p.Ile25732Val | |
| XM_024453097.1:c.74536A>G (TTN) | XP_024308865.1:p.Ile24846Val | |
| XM_024453098.1:c.74455A>G (TTN) | XP_024308866.1:p.Ile24819Val | |
| XM_024453099.1:c.56218A>G (TTN) | XP_024308867.1:p.Ile18740Val | |
| XM_024453100.1:c.46072A>G (TTN) | XP_024308868.1:p.Ile15358Val |