Linked Data
ClinVar Variation Id:
47128
dbSNP Id:
rs114711705
ExAC:
2:179460398 C / T
gnomAD v2:
2-179460398-C-T
gnomAD v3:
2-178595671-C-T
gnomAD v4:
2-178595671-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178595671C>T , CM000664.2:g.178595671C>T | GRCh38 |
| NC_000002.11:g.179460398C>T , CM000664.1:g.179460398C>T | GRCh37 |
| NC_000002.10:g.179168644C>T | NCBI36 |
| NG_011618.3:g.240132G>A , LRG_391:g.240132G>A | |
| NG_051363.1:g.77845C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.49979G>A (TTN) | ENSP00000343764.6:p.Arg16660His | |
| ENST00000342175.11:c.31064G>A (TTN) | ENSP00000340554.6:p.Arg10355His | |
| ENST00000359218.10:c.30863G>A (TTN) | ENSP00000352154.5:p.Arg10288His | |
| ENST00000342175.10:c.31064G>A (TTN) | ENSP00000340554.6:p.Arg10355His | |
| ENST00000342992.10:c.49979G>A (TTN) | ENSP00000343764.6:p.Arg16660His | |
| ENST00000359218.9:c.30863G>A (TTN) | ENSP00000352154.5:p.Arg10288His | |
| ENST00000460472.6:c.30488G>A (TTN) | ENSP00000434586.1:p.Arg10163His | |
| ENST00000589042.5:c.57683G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg19228His | |
| ENST00000591111.5:c.52760G>A (TTN) | ENSP00000465570.1:p.Arg17587His | |
| ENST00000615779.4:c.52760G>A (TTN) | ENSP00000483597.1:p.Arg17587His | |
| NM_001256850.1:c.52760G>A (TTN) | NP_001243779.1:p.Arg17587His | |
| NM_001267550.2:c.57683G>A (TTN) MANE Select | NP_001254479.2:p.Arg19228His | |
| NM_003319.4:c.30488G>A (TTN) | NP_003310.4:p.Arg10163His | |
| NM_133378.4:c.49979G>A (TTN) | NP_596869.4:p.Arg16660His | |
| NM_133432.3:c.30863G>A (TTN) | NP_597676.3:p.Arg10288His | |
| NM_133437.4:c.31064G>A (TTN) | NP_597681.4:p.Arg10355His | |
| NR_038271.1:n.597-1925C>T (TTN-AS1) | ||
| NR_038272.1:n.3365-1925C>T (TTN-AS1) | ||
| XM_011511729.1:c.56780G>A (TTN) | XP_011510031.1:p.Arg18927His | |
| XM_011511730.1:c.30674G>A (TTN) | XP_011510032.1:p.Arg10225His | |
| XM_011511731.1:c.30533G>A (TTN) | XP_011510033.1:p.Arg10178His | |
| XM_017004819.1:c.56576G>A (TTN) | XP_016860308.1:p.Arg18859His | |
| XM_017004820.1:c.51974G>A (TTN) | XP_016860309.1:p.Arg17325His | |
| XM_017004821.1:c.51971G>A (TTN) | XP_016860310.1:p.Arg17324His | |
| XM_017004822.1:c.49013G>A (TTN) | XP_016860311.1:p.Arg16338His | |
| XM_017004823.1:c.30629G>A (TTN) | XP_016860312.1:p.Arg10210His | |
| XM_024453094.1:c.52124G>A (TTN) | XP_024308862.1:p.Arg17375His | |
| XM_024453095.1:c.52121G>A (TTN) | XP_024308863.1:p.Arg17374His | |
| XM_024453096.1:c.51554G>A (TTN) | XP_024308864.1:p.Arg17185His | |
| XM_024453097.1:c.48896G>A (TTN) | XP_024308865.1:p.Arg16299His | |
| XM_024453098.1:c.48815G>A (TTN) | XP_024308866.1:p.Arg16272His | |
| XM_024453099.1:c.30578G>A (TTN) | XP_024308867.1:p.Arg10193His | |
| XM_024453100.1:c.20432G>A (TTN) | XP_024308868.1:p.Arg6811His |