Linked Data
ClinVar Variation Id:
165891
ClinVar RCV Id:
RCV000152252
RCV000172283
RCV000298339
RCV000312931
RCV000353195
RCV000408391
RCV000404677
RCV000470625
dbSNP Id:
rs200155485
ExAC:
2:179447784 G / A
gnomAD v2:
2-179447784-G-A
gnomAD v3:
2-178583057-G-A
gnomAD v4:
2-178583057-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583057G>A , CM000664.2:g.178583057G>A | GRCh38 |
| NC_000002.11:g.179447784G>A , CM000664.1:g.179447784G>A | GRCh37 |
| NC_000002.10:g.179156030G>A | NCBI36 |
| NG_011618.3:g.252746C>T , LRG_391:g.252746C>T | |
| NG_051363.1:g.65231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58042C>T (TTN) | ENSP00000343764.6:p.Arg19348Trp | |
| ENST00000342175.11:c.39127C>T (TTN) | ENSP00000340554.6:p.Arg13043Trp | |
| ENST00000359218.10:c.38926C>T (TTN) | ENSP00000352154.5:p.Arg12976Trp | |
| ENST00000342175.10:c.39127C>T (TTN) | ENSP00000340554.6:p.Arg13043Trp | |
| ENST00000342992.10:c.58042C>T (TTN) | ENSP00000343764.6:p.Arg19348Trp | |
| ENST00000359218.9:c.38926C>T (TTN) | ENSP00000352154.5:p.Arg12976Trp | |
| ENST00000460472.6:c.38551C>T (TTN) | ENSP00000434586.1:p.Arg12851Trp | |
| ENST00000589042.5:c.65746C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg21916Trp | |
| ENST00000591111.5:c.60823C>T (TTN) | ENSP00000465570.1:p.Arg20275Trp | |
| ENST00000615779.4:c.60823C>T (TTN) | ENSP00000483597.1:p.Arg20275Trp | |
| NM_001256850.1:c.60823C>T (TTN) | NP_001243779.1:p.Arg20275Trp | |
| NM_001267550.2:c.65746C>T (TTN) MANE Select | NP_001254479.2:p.Arg21916Trp | |
| NM_003319.4:c.38551C>T (TTN) | NP_003310.4:p.Arg12851Trp | |
| NM_133378.4:c.58042C>T (TTN) | NP_596869.4:p.Arg19348Trp | |
| NM_133432.3:c.38926C>T (TTN) | NP_597676.3:p.Arg12976Trp | |
| NM_133437.4:c.39127C>T (TTN) | NP_597681.4:p.Arg13043Trp | |
| NR_038271.1:n.596+11608G>A (TTN-AS1) | ||
| NR_038272.1:n.2245G>A (TTN-AS1) | ||
| XM_011511729.1:c.64843C>T (TTN) | XP_011510031.1:p.Arg21615Trp | |
| XM_011511730.1:c.38737C>T (TTN) | XP_011510032.1:p.Arg12913Trp | |
| XM_011511731.1:c.38596C>T (TTN) | XP_011510033.1:p.Arg12866Trp | |
| XM_017004819.1:c.64639C>T (TTN) | XP_016860308.1:p.Arg21547Trp | |
| XM_017004820.1:c.60037C>T (TTN) | XP_016860309.1:p.Arg20013Trp | |
| XM_017004821.1:c.60034C>T (TTN) | XP_016860310.1:p.Arg20012Trp | |
| XM_017004822.1:c.57076C>T (TTN) | XP_016860311.1:p.Arg19026Trp | |
| XM_017004823.1:c.38692C>T (TTN) | XP_016860312.1:p.Arg12898Trp | |
| XM_024453094.1:c.60187C>T (TTN) | XP_024308862.1:p.Arg20063Trp | |
| XM_024453095.1:c.60184C>T (TTN) | XP_024308863.1:p.Arg20062Trp | |
| XM_024453096.1:c.59617C>T (TTN) | XP_024308864.1:p.Arg19873Trp | |
| XM_024453097.1:c.56959C>T (TTN) | XP_024308865.1:p.Arg18987Trp | |
| XM_024453098.1:c.56878C>T (TTN) | XP_024308866.1:p.Arg18960Trp | |
| XM_024453099.1:c.38641C>T (TTN) | XP_024308867.1:p.Arg12881Trp | |
| XM_024453100.1:c.28495C>T (TTN) | XP_024308868.1:p.Arg9499Trp |