Linked Data
ClinVar Variation Id:
405051
dbSNP Id:
rs766522109
ExAC:
2:179427925 C / T
gnomAD v2:
2-179427925-C-T
gnomAD v3:
2-178563198-C-T
gnomAD v4:
2-178563198-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563198C>T , CM000664.2:g.178563198C>T | GRCh38 |
| NC_000002.11:g.179427925C>T , CM000664.1:g.179427925C>T | GRCh37 |
| NC_000002.10:g.179136171C>T | NCBI36 |
| NG_011618.3:g.272605G>A , LRG_391:g.272605G>A | |
| NG_051363.1:g.45372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75230G>A (TTN) | ENSP00000343764.6:p.Arg25077His | |
| ENST00000342175.11:c.56315G>A (TTN) | ENSP00000340554.6:p.Arg18772His | |
| ENST00000359218.10:c.56114G>A (TTN) | ENSP00000352154.5:p.Arg18705His | |
| ENST00000342175.10:c.56315G>A (TTN) | ENSP00000340554.6:p.Arg18772His | |
| ENST00000342992.10:c.75230G>A (TTN) | ENSP00000343764.6:p.Arg25077His | |
| ENST00000359218.9:c.56114G>A (TTN) | ENSP00000352154.5:p.Arg18705His | |
| ENST00000460472.6:c.55739G>A (TTN) | ENSP00000434586.1:p.Arg18580His | |
| ENST00000589042.5:c.82934G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg27645His | |
| ENST00000591111.5:c.78011G>A (TTN) | ENSP00000465570.1:p.Arg26004His | |
| ENST00000615779.4:c.78011G>A (TTN) | ENSP00000483597.1:p.Arg26004His | |
| NM_001256850.1:c.78011G>A (TTN) | NP_001243779.1:p.Arg26004His | |
| NM_001267550.2:c.82934G>A (TTN) MANE Select | NP_001254479.2:p.Arg27645His | |
| NM_003319.4:c.55739G>A (TTN) | NP_003310.4:p.Arg18580His | |
| NM_133378.4:c.75230G>A (TTN) | NP_596869.4:p.Arg25077His | |
| NM_133432.3:c.56114G>A (TTN) | NP_597676.3:p.Arg18705His | |
| NM_133437.4:c.56315G>A (TTN) | NP_597681.4:p.Arg18772His | |
| NR_038271.1:n.447-8102C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19374C>T (TTN-AS1) | ||
| XM_011511729.1:c.82031G>A (TTN) | XP_011510031.1:p.Arg27344His | |
| XM_011511730.1:c.55925G>A (TTN) | XP_011510032.1:p.Arg18642His | |
| XM_011511731.1:c.55784G>A (TTN) | XP_011510033.1:p.Arg18595His | |
| XM_017004819.1:c.81827G>A (TTN) | XP_016860308.1:p.Arg27276His | |
| XM_017004820.1:c.77225G>A (TTN) | XP_016860309.1:p.Arg25742His | |
| XM_017004821.1:c.77222G>A (TTN) | XP_016860310.1:p.Arg25741His | |
| XM_017004822.1:c.74264G>A (TTN) | XP_016860311.1:p.Arg24755His | |
| XM_017004823.1:c.55880G>A (TTN) | XP_016860312.1:p.Arg18627His | |
| XM_024453094.1:c.77375G>A (TTN) | XP_024308862.1:p.Arg25792His | |
| XM_024453095.1:c.77372G>A (TTN) | XP_024308863.1:p.Arg25791His | |
| XM_024453096.1:c.76805G>A (TTN) | XP_024308864.1:p.Arg25602His | |
| XM_024453097.1:c.74147G>A (TTN) | XP_024308865.1:p.Arg24716His | |
| XM_024453098.1:c.74066G>A (TTN) | XP_024308866.1:p.Arg24689His | |
| XM_024453099.1:c.55829G>A (TTN) | XP_024308867.1:p.Arg18610His | |
| XM_024453100.1:c.45683G>A (TTN) | XP_024308868.1:p.Arg15228His |