Linked Data
ClinVar Variation Id:
47106
ClinVar RCV Id:
RCV000040376
RCV000172659
RCV000245388
RCV000270469
RCV000290334
RCV000324440
RCV000360425
RCV000384696
RCV001080060
RCV001170600
RCV004534910
dbSNP Id:
rs72646823
ExAC:
2:179466171 T / C
gnomAD v2:
2-179466171-T-C
gnomAD v3:
2-178601444-T-C
gnomAD v4:
2-178601444-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601444T>C , CM000664.2:g.178601444T>C | GRCh38 |
| NC_000002.11:g.179466171T>C , CM000664.1:g.179466171T>C | GRCh37 |
| NC_000002.10:g.179174416T>C | NCBI36 |
| NG_011618.3:g.234359A>G , LRG_391:g.234359A>G | |
| NG_051363.1:g.83618T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47849A>G (TTN) | ENSP00000343764.6:p.Lys15950Arg | |
| ENST00000342175.11:c.28934A>G (TTN) | ENSP00000340554.6:p.Lys9645Arg | |
| ENST00000359218.10:c.28733A>G (TTN) | ENSP00000352154.5:p.Lys9578Arg | |
| ENST00000342175.10:c.28934A>G (TTN) | ENSP00000340554.6:p.Lys9645Arg | |
| ENST00000342992.10:c.47849A>G (TTN) | ENSP00000343764.6:p.Lys15950Arg | |
| ENST00000359218.9:c.28733A>G (TTN) | ENSP00000352154.5:p.Lys9578Arg | |
| ENST00000460472.6:c.28358A>G (TTN) | ENSP00000434586.1:p.Lys9453Arg | |
| ENST00000589042.5:c.55553A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys18518Arg | |
| ENST00000591111.5:c.50630A>G (TTN) | ENSP00000465570.1:p.Lys16877Arg | |
| ENST00000615779.4:c.50630A>G (TTN) | ENSP00000483597.1:p.Lys16877Arg | |
| NM_001256850.1:c.50630A>G (TTN) | NP_001243779.1:p.Lys16877Arg | |
| NM_001267550.2:c.55553A>G (TTN) MANE Select | NP_001254479.2:p.Lys18518Arg | |
| NM_003319.4:c.28358A>G (TTN) | NP_003310.4:p.Lys9453Arg | |
| NM_133378.4:c.47849A>G (TTN) | NP_596869.4:p.Lys15950Arg | |
| NM_133432.3:c.28733A>G (TTN) | NP_597676.3:p.Lys9578Arg | |
| NM_133437.4:c.28934A>G (TTN) | NP_597681.4:p.Lys9645Arg | |
| NR_038271.1:n.682+3763T>C (TTN-AS1) | ||
| NR_038272.1:n.3917+777T>C (TTN-AS1) | ||
| XM_011511729.1:c.54650A>G (TTN) | XP_011510031.1:p.Lys18217Arg | |
| XM_011511730.1:c.28544A>G (TTN) | XP_011510032.1:p.Lys9515Arg | |
| XM_011511731.1:c.28403A>G (TTN) | XP_011510033.1:p.Lys9468Arg | |
| XM_017004819.1:c.54446A>G (TTN) | XP_016860308.1:p.Lys18149Arg | |
| XM_017004820.1:c.49844A>G (TTN) | XP_016860309.1:p.Lys16615Arg | |
| XM_017004821.1:c.49841A>G (TTN) | XP_016860310.1:p.Lys16614Arg | |
| XM_017004822.1:c.46883A>G (TTN) | XP_016860311.1:p.Lys15628Arg | |
| XM_017004823.1:c.28499A>G (TTN) | XP_016860312.1:p.Lys9500Arg | |
| XM_024453094.1:c.49994A>G (TTN) | XP_024308862.1:p.Lys16665Arg | |
| XM_024453095.1:c.49991A>G (TTN) | XP_024308863.1:p.Lys16664Arg | |
| XM_024453096.1:c.49424A>G (TTN) | XP_024308864.1:p.Lys16475Arg | |
| XM_024453097.1:c.46766A>G (TTN) | XP_024308865.1:p.Lys15589Arg | |
| XM_024453098.1:c.46685A>G (TTN) | XP_024308866.1:p.Lys15562Arg | |
| XM_024453099.1:c.28448A>G (TTN) | XP_024308867.1:p.Lys9483Arg | |
| XM_024453100.1:c.18302A>G (TTN) | XP_024308868.1:p.Lys6101Arg |