Linked Data
ClinVar Variation Id:
47428
ClinVar RCV Id:
RCV000040697
RCV000172229
RCV000283706
RCV000372050
RCV000320147
RCV000341923
RCV000380228
RCV000559104
RCV000620676
RCV000764310
RCV004541183
dbSNP Id:
rs200775919
ExAC:
2:179427241 A / G
gnomAD v2:
2-179427241-A-G
gnomAD v3:
2-178562514-A-G
gnomAD v4:
2-178562514-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562514A>G , CM000664.2:g.178562514A>G | GRCh38 |
| NC_000002.11:g.179427241A>G , CM000664.1:g.179427241A>G | GRCh37 |
| NC_000002.10:g.179135487A>G | NCBI36 |
| NG_011618.3:g.273289T>C , LRG_391:g.273289T>C | |
| NG_051363.1:g.44688A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75914T>C (TTN) | ENSP00000343764.6:p.Val25305Ala | |
| ENST00000342175.11:c.56999T>C (TTN) | ENSP00000340554.6:p.Val19000Ala | |
| ENST00000359218.10:c.56798T>C (TTN) | ENSP00000352154.5:p.Val18933Ala | |
| ENST00000342175.10:c.56999T>C (TTN) | ENSP00000340554.6:p.Val19000Ala | |
| ENST00000342992.10:c.75914T>C (TTN) | ENSP00000343764.6:p.Val25305Ala | |
| ENST00000359218.9:c.56798T>C (TTN) | ENSP00000352154.5:p.Val18933Ala | |
| ENST00000460472.6:c.56423T>C (TTN) | ENSP00000434586.1:p.Val18808Ala | |
| ENST00000589042.5:c.83618T>C (TTN) MANE Select | ENSP00000467141.1:p.Val27873Ala | |
| ENST00000591111.5:c.78695T>C (TTN) | ENSP00000465570.1:p.Val26232Ala | |
| ENST00000615779.4:c.78695T>C (TTN) | ENSP00000483597.1:p.Val26232Ala | |
| NM_001256850.1:c.78695T>C (TTN) | NP_001243779.1:p.Val26232Ala | |
| NM_001267550.2:c.83618T>C (TTN) MANE Select | NP_001254479.2:p.Val27873Ala | |
| NM_003319.4:c.56423T>C (TTN) | NP_003310.4:p.Val18808Ala | |
| NM_133378.4:c.75914T>C (TTN) | NP_596869.4:p.Val25305Ala | |
| NM_133432.3:c.56798T>C (TTN) | NP_597676.3:p.Val18933Ala | |
| NM_133437.4:c.56999T>C (TTN) | NP_597681.4:p.Val19000Ala | |
| NR_038271.1:n.447-8786A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-20058A>G (TTN-AS1) | ||
| XM_011511729.1:c.82715T>C (TTN) | XP_011510031.1:p.Val27572Ala | |
| XM_011511730.1:c.56609T>C (TTN) | XP_011510032.1:p.Val18870Ala | |
| XM_011511731.1:c.56468T>C (TTN) | XP_011510033.1:p.Val18823Ala | |
| XM_017004819.1:c.82511T>C (TTN) | XP_016860308.1:p.Val27504Ala | |
| XM_017004820.1:c.77909T>C (TTN) | XP_016860309.1:p.Val25970Ala | |
| XM_017004821.1:c.77906T>C (TTN) | XP_016860310.1:p.Val25969Ala | |
| XM_017004822.1:c.74948T>C (TTN) | XP_016860311.1:p.Val24983Ala | |
| XM_017004823.1:c.56564T>C (TTN) | XP_016860312.1:p.Val18855Ala | |
| XM_024453094.1:c.78059T>C (TTN) | XP_024308862.1:p.Val26020Ala | |
| XM_024453095.1:c.78056T>C (TTN) | XP_024308863.1:p.Val26019Ala | |
| XM_024453096.1:c.77489T>C (TTN) | XP_024308864.1:p.Val25830Ala | |
| XM_024453097.1:c.74831T>C (TTN) | XP_024308865.1:p.Val24944Ala | |
| XM_024453098.1:c.74750T>C (TTN) | XP_024308866.1:p.Val24917Ala | |
| XM_024453099.1:c.56513T>C (TTN) | XP_024308867.1:p.Val18838Ala | |
| XM_024453100.1:c.46367T>C (TTN) | XP_024308868.1:p.Val15456Ala |