Linked Data
ClinVar Variation Id:
47609
ClinVar RCV Id:
RCV000040878
RCV000864110
RCV001132222
RCV001132224
RCV001132221
RCV001132223
RCV001132220
RCV001561054
RCV003486614
RCV004541194
dbSNP Id:
rs200544701
ExAC:
2:179403853 T / C
gnomAD v2:
2-179403853-T-C
gnomAD v3:
2-178539126-T-C
gnomAD v4:
2-178539126-T-C
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539126T>C , CM000664.2:g.178539126T>C | GRCh38 |
| NC_000002.11:g.179403853T>C , CM000664.1:g.179403853T>C | GRCh37 |
| NC_000002.10:g.179112099T>C | NCBI36 |
| NG_011618.3:g.296677A>G , LRG_391:g.296677A>G | |
| NG_051363.1:g.21300T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91105A>G (TTN) | ENSP00000343764.6:p.Lys30369Glu | |
| ENST00000342175.11:c.72190A>G (TTN) | ENSP00000340554.6:p.Lys24064Glu | |
| ENST00000359218.10:c.71989A>G (TTN) | ENSP00000352154.5:p.Lys23997Glu | |
| ENST00000342175.10:c.72190A>G (TTN) | ENSP00000340554.6:p.Lys24064Glu | |
| ENST00000342992.10:c.91105A>G (TTN) | ENSP00000343764.6:p.Lys30369Glu | |
| ENST00000359218.9:c.71989A>G (TTN) | ENSP00000352154.5:p.Lys23997Glu | |
| ENST00000460472.6:c.71614A>G (TTN) | ENSP00000434586.1:p.Lys23872Glu | |
| ENST00000589042.5:c.98809A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys32937Glu | |
| ENST00000591111.5:c.93886A>G (TTN) | ENSP00000465570.1:p.Lys31296Glu | |
| ENST00000615779.4:c.93886A>G (TTN) | ENSP00000483597.1:p.Lys31296Glu | |
| NM_001256850.1:c.93886A>G (TTN) | NP_001243779.1:p.Lys31296Glu | |
| NM_001267550.2:c.98809A>G (TTN) MANE Select | NP_001254479.2:p.Lys32937Glu | |
| NM_003319.4:c.71614A>G (TTN) | NP_003310.4:p.Lys23872Glu | |
| NM_133378.4:c.91105A>G (TTN) | NP_596869.4:p.Lys30369Glu | |
| NM_133432.3:c.71989A>G (TTN) | NP_597676.3:p.Lys23997Glu | |
| NM_133437.4:c.72190A>G (TTN) | NP_597681.4:p.Lys24064Glu | |
| NR_038271.1:n.446+15490T>C (TTN-AS1) | ||
| NR_038272.1:n.1076T>C (TTN-AS1) | ||
| XM_011511729.1:c.97906A>G (TTN) | XP_011510031.1:p.Lys32636Glu | |
| XM_011511730.1:c.71800A>G (TTN) | XP_011510032.1:p.Lys23934Glu | |
| XM_011511731.1:c.71659A>G (TTN) | XP_011510033.1:p.Lys23887Glu | |
| XM_017004819.1:c.97702A>G (TTN) | XP_016860308.1:p.Lys32568Glu | |
| XM_017004820.1:c.93100A>G (TTN) | XP_016860309.1:p.Lys31034Glu | |
| XM_017004821.1:c.93097A>G (TTN) | XP_016860310.1:p.Lys31033Glu | |
| XM_017004822.1:c.90139A>G (TTN) | XP_016860311.1:p.Lys30047Glu | |
| XM_017004823.1:c.71755A>G (TTN) | XP_016860312.1:p.Lys23919Glu | |
| XM_024453094.1:c.93250A>G (TTN) | XP_024308862.1:p.Lys31084Glu | |
| XM_024453095.1:c.93247A>G (TTN) | XP_024308863.1:p.Lys31083Glu | |
| XM_024453096.1:c.92680A>G (TTN) | XP_024308864.1:p.Lys30894Glu | |
| XM_024453097.1:c.90022A>G (TTN) | XP_024308865.1:p.Lys30008Glu | |
| XM_024453098.1:c.89941A>G (TTN) | XP_024308866.1:p.Lys29981Glu | |
| XM_024453099.1:c.71704A>G (TTN) | XP_024308867.1:p.Lys23902Glu | |
| XM_024453100.1:c.61558A>G (TTN) | XP_024308868.1:p.Lys20520Glu |