Linked Data
ClinVar Variation Id:
202409
dbSNP Id:
rs794729289
gnomAD v2:
2-179432681-C-A
gnomAD v3:
2-178567954-C-A
gnomAD v4:
2-178567954-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567954C>A , CM000664.2:g.178567954C>A | GRCh38 |
| NC_000002.11:g.179432681C>A , CM000664.1:g.179432681C>A | GRCh37 |
| NC_000002.10:g.179140927C>A | NCBI36 |
| NG_011618.3:g.267849G>T , LRG_391:g.267849G>T | |
| NG_051363.1:g.50128C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70474G>T (TTN) | ENSP00000343764.6:p.Glu23492Ter | |
| ENST00000342175.11:c.51559G>T (TTN) | ENSP00000340554.6:p.Glu17187Ter | |
| ENST00000359218.10:c.51358G>T (TTN) | ENSP00000352154.5:p.Glu17120Ter | |
| ENST00000342175.10:c.51559G>T (TTN) | ENSP00000340554.6:p.Glu17187Ter | |
| ENST00000342992.10:c.70474G>T (TTN) | ENSP00000343764.6:p.Glu23492Ter | |
| ENST00000359218.9:c.51358G>T (TTN) | ENSP00000352154.5:p.Glu17120Ter | |
| ENST00000460472.6:c.50983G>T (TTN) | ENSP00000434586.1:p.Glu16995Ter | |
| ENST00000589042.5:c.78178G>T (TTN) MANE Select | ENSP00000467141.1:p.Glu26060Ter | |
| ENST00000591111.5:c.73255G>T (TTN) | ENSP00000465570.1:p.Glu24419Ter | |
| ENST00000615779.4:c.73255G>T (TTN) | ENSP00000483597.1:p.Glu24419Ter | |
| NM_001256850.1:c.73255G>T (TTN) | NP_001243779.1:p.Glu24419Ter | |
| NM_001267550.2:c.78178G>T (TTN) MANE Select | NP_001254479.2:p.Glu26060Ter | |
| NM_003319.4:c.50983G>T (TTN) | NP_003310.4:p.Glu16995Ter | |
| NM_133378.4:c.70474G>T (TTN) | NP_596869.4:p.Glu23492Ter | |
| NM_133432.3:c.51358G>T (TTN) | NP_597676.3:p.Glu17120Ter | |
| NM_133437.4:c.51559G>T (TTN) | NP_597681.4:p.Glu17187Ter | |
| NR_038271.1:n.447-3346C>A (TTN-AS1) | ||
| NR_038272.1:n.2044-14618C>A (TTN-AS1) | ||
| XM_011511729.1:c.77275G>T (TTN) | XP_011510031.1:p.Glu25759Ter | |
| XM_011511730.1:c.51169G>T (TTN) | XP_011510032.1:p.Glu17057Ter | |
| XM_011511731.1:c.51028G>T (TTN) | XP_011510033.1:p.Glu17010Ter | |
| XM_017004819.1:c.77071G>T (TTN) | XP_016860308.1:p.Glu25691Ter | |
| XM_017004820.1:c.72469G>T (TTN) | XP_016860309.1:p.Glu24157Ter | |
| XM_017004821.1:c.72466G>T (TTN) | XP_016860310.1:p.Glu24156Ter | |
| XM_017004822.1:c.69508G>T (TTN) | XP_016860311.1:p.Glu23170Ter | |
| XM_017004823.1:c.51124G>T (TTN) | XP_016860312.1:p.Glu17042Ter | |
| XM_024453094.1:c.72619G>T (TTN) | XP_024308862.1:p.Glu24207Ter | |
| XM_024453095.1:c.72616G>T (TTN) | XP_024308863.1:p.Glu24206Ter | |
| XM_024453096.1:c.72049G>T (TTN) | XP_024308864.1:p.Glu24017Ter | |
| XM_024453097.1:c.69391G>T (TTN) | XP_024308865.1:p.Glu23131Ter | |
| XM_024453098.1:c.69310G>T (TTN) | XP_024308866.1:p.Glu23104Ter | |
| XM_024453099.1:c.51073G>T (TTN) | XP_024308867.1:p.Glu17025Ter | |
| XM_024453100.1:c.40927G>T (TTN) | XP_024308868.1:p.Glu13643Ter |