Linked Data
ClinVar Variation Id:
47175
ClinVar RCV Id:
RCV000184247
RCV000211745
RCV000642745
RCV000768966
RCV001256787
RCV001537860
RCV002453326
RCV002477121
RCV003387740
dbSNP Id:
rs72646846
ExAC:
2:179454576 G / A
gnomAD v2:
2-179454576-G-A
gnomAD v3:
2-178589849-G-A
gnomAD v4:
2-178589849-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589849G>A , CM000664.2:g.178589849G>A | GRCh38 |
| NC_000002.11:g.179454576G>A , CM000664.1:g.179454576G>A | GRCh37 |
| NC_000002.10:g.179162822G>A | NCBI36 |
| NG_011618.3:g.245954C>T , LRG_391:g.245954C>T | |
| NG_051363.1:g.72023G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.54172C>T (TTN) | ENSP00000343764.6:p.Arg18058Ter | |
| ENST00000342175.11:c.35257C>T (TTN) | ENSP00000340554.6:p.Arg11753Ter | |
| ENST00000359218.10:c.35056C>T (TTN) | ENSP00000352154.5:p.Arg11686Ter | |
| ENST00000342175.10:c.35257C>T (TTN) | ENSP00000340554.6:p.Arg11753Ter | |
| ENST00000342992.10:c.54172C>T (TTN) | ENSP00000343764.6:p.Arg18058Ter | |
| ENST00000359218.9:c.35056C>T (TTN) | ENSP00000352154.5:p.Arg11686Ter | |
| ENST00000460472.6:c.34681C>T (TTN) | ENSP00000434586.1:p.Arg11561Ter | |
| ENST00000589042.5:c.61876C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg20626Ter | |
| ENST00000591111.5:c.56953C>T (TTN) | ENSP00000465570.1:p.Arg18985Ter | |
| ENST00000615779.4:c.56953C>T (TTN) | ENSP00000483597.1:p.Arg18985Ter | |
| NM_001256850.1:c.56953C>T (TTN) | NP_001243779.1:p.Arg18985Ter | |
| NM_001267550.2:c.61876C>T (TTN) MANE Select | NP_001254479.2:p.Arg20626Ter | |
| NM_003319.4:c.34681C>T (TTN) | NP_003310.4:p.Arg11561Ter | |
| NM_133378.4:c.54172C>T (TTN) | NP_596869.4:p.Arg18058Ter | |
| NM_133432.3:c.35056C>T (TTN) | NP_597676.3:p.Arg11686Ter | |
| NM_133437.4:c.35257C>T (TTN) | NP_597681.4:p.Arg11753Ter | |
| NR_038271.1:n.597-7747G>A (TTN-AS1) | ||
| NR_038272.1:n.3189-1290G>A (TTN-AS1) | ||
| XM_011511729.1:c.60973C>T (TTN) | XP_011510031.1:p.Arg20325Ter | |
| XM_011511730.1:c.34867C>T (TTN) | XP_011510032.1:p.Arg11623Ter | |
| XM_011511731.1:c.34726C>T (TTN) | XP_011510033.1:p.Arg11576Ter | |
| XM_017004819.1:c.60769C>T (TTN) | XP_016860308.1:p.Arg20257Ter | |
| XM_017004820.1:c.56167C>T (TTN) | XP_016860309.1:p.Arg18723Ter | |
| XM_017004821.1:c.56164C>T (TTN) | XP_016860310.1:p.Arg18722Ter | |
| XM_017004822.1:c.53206C>T (TTN) | XP_016860311.1:p.Arg17736Ter | |
| XM_017004823.1:c.34822C>T (TTN) | XP_016860312.1:p.Arg11608Ter | |
| XM_024453094.1:c.56317C>T (TTN) | XP_024308862.1:p.Arg18773Ter | |
| XM_024453095.1:c.56314C>T (TTN) | XP_024308863.1:p.Arg18772Ter | |
| XM_024453096.1:c.55747C>T (TTN) | XP_024308864.1:p.Arg18583Ter | |
| XM_024453097.1:c.53089C>T (TTN) | XP_024308865.1:p.Arg17697Ter | |
| XM_024453098.1:c.53008C>T (TTN) | XP_024308866.1:p.Arg17670Ter | |
| XM_024453099.1:c.34771C>T (TTN) | XP_024308867.1:p.Arg11591Ter | |
| XM_024453100.1:c.24625C>T (TTN) | XP_024308868.1:p.Arg8209Ter |