Linked Data
ClinVar Variation Id:
413039
dbSNP Id:
rs141817409
ExAC:
2:179413138 C / T
gnomAD v2:
2-179413138-C-T
gnomAD v3:
2-178548411-C-T
gnomAD v4:
2-178548411-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548411C>T , CM000664.2:g.178548411C>T | GRCh38 |
| NC_000002.11:g.179413138C>T , CM000664.1:g.179413138C>T | GRCh37 |
| NC_000002.10:g.179121384C>T | NCBI36 |
| NG_011618.3:g.287392G>A , LRG_391:g.287392G>A | |
| NG_051363.1:g.30585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.85511G>A (TTN) | ENSP00000343764.6:p.Arg28504His | |
| ENST00000342175.11:c.66596G>A (TTN) | ENSP00000340554.6:p.Arg22199His | |
| ENST00000359218.10:c.66395G>A (TTN) | ENSP00000352154.5:p.Arg22132His | |
| ENST00000342175.10:c.66596G>A (TTN) | ENSP00000340554.6:p.Arg22199His | |
| ENST00000342992.10:c.85511G>A (TTN) | ENSP00000343764.6:p.Arg28504His | |
| ENST00000359218.9:c.66395G>A (TTN) | ENSP00000352154.5:p.Arg22132His | |
| ENST00000460472.6:c.66020G>A (TTN) | ENSP00000434586.1:p.Arg22007His | |
| ENST00000589042.5:c.93215G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg31072His | |
| ENST00000591111.5:c.88292G>A (TTN) | ENSP00000465570.1:p.Arg29431His | |
| ENST00000615779.4:c.88292G>A (TTN) | ENSP00000483597.1:p.Arg29431His | |
| NM_001256850.1:c.88292G>A (TTN) | NP_001243779.1:p.Arg29431His | |
| NM_001267550.2:c.93215G>A (TTN) MANE Select | NP_001254479.2:p.Arg31072His | |
| NM_003319.4:c.66020G>A (TTN) | NP_003310.4:p.Arg22007His | |
| NM_133378.4:c.85511G>A (TTN) | NP_596869.4:p.Arg28504His | |
| NM_133432.3:c.66395G>A (TTN) | NP_597676.3:p.Arg22132His | |
| NM_133437.4:c.66596G>A (TTN) | NP_597681.4:p.Arg22199His | |
| NR_038271.1:n.447-22889C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+6050C>T (TTN-AS1) | ||
| XM_011511729.1:c.92312G>A (TTN) | XP_011510031.1:p.Arg30771His | |
| XM_011511730.1:c.66206G>A (TTN) | XP_011510032.1:p.Arg22069His | |
| XM_011511731.1:c.66065G>A (TTN) | XP_011510033.1:p.Arg22022His | |
| XM_017004819.1:c.92108G>A (TTN) | XP_016860308.1:p.Arg30703His | |
| XM_017004820.1:c.87506G>A (TTN) | XP_016860309.1:p.Arg29169His | |
| XM_017004821.1:c.87503G>A (TTN) | XP_016860310.1:p.Arg29168His | |
| XM_017004822.1:c.84545G>A (TTN) | XP_016860311.1:p.Arg28182His | |
| XM_017004823.1:c.66161G>A (TTN) | XP_016860312.1:p.Arg22054His | |
| XM_024453094.1:c.87656G>A (TTN) | XP_024308862.1:p.Arg29219His | |
| XM_024453095.1:c.87653G>A (TTN) | XP_024308863.1:p.Arg29218His | |
| XM_024453096.1:c.87086G>A (TTN) | XP_024308864.1:p.Arg29029His | |
| XM_024453097.1:c.84428G>A (TTN) | XP_024308865.1:p.Arg28143His | |
| XM_024453098.1:c.84347G>A (TTN) | XP_024308866.1:p.Arg28116His | |
| XM_024453099.1:c.66110G>A (TTN) | XP_024308867.1:p.Arg22037His | |
| XM_024453100.1:c.55964G>A (TTN) | XP_024308868.1:p.Arg18655His |