Linked Data
ClinVar Variation Id:
467266
dbSNP Id:
rs760383112
ExAC:
2:179469502 C / T
gnomAD v2:
2-179469502-C-T
gnomAD v3:
2-178604775-C-T
gnomAD v4:
2-178604775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604775C>T , CM000664.2:g.178604775C>T | GRCh38 |
| NC_000002.11:g.179469502C>T , CM000664.1:g.179469502C>T | GRCh37 |
| NC_000002.10:g.179177747C>T | NCBI36 |
| NG_011618.3:g.231028G>A , LRG_391:g.231028G>A | |
| NG_051363.1:g.86949C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46610G>A (TTN) | ENSP00000343764.6:p.Arg15537His | |
| ENST00000342175.11:c.27695G>A (TTN) | ENSP00000340554.6:p.Arg9232His | |
| ENST00000359218.10:c.27494G>A (TTN) | ENSP00000352154.5:p.Arg9165His | |
| ENST00000342175.10:c.27695G>A (TTN) | ENSP00000340554.6:p.Arg9232His | |
| ENST00000342992.10:c.46610G>A (TTN) | ENSP00000343764.6:p.Arg15537His | |
| ENST00000359218.9:c.27494G>A (TTN) | ENSP00000352154.5:p.Arg9165His | |
| ENST00000460472.6:c.27119G>A (TTN) | ENSP00000434586.1:p.Arg9040His | |
| ENST00000589042.5:c.54314G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg18105His | |
| ENST00000591111.5:c.49391G>A (TTN) | ENSP00000465570.1:p.Arg16464His | |
| ENST00000615779.4:c.49391G>A (TTN) | ENSP00000483597.1:p.Arg16464His | |
| NM_001256850.1:c.49391G>A (TTN) | NP_001243779.1:p.Arg16464His | |
| NM_001267550.2:c.54314G>A (TTN) MANE Select | NP_001254479.2:p.Arg18105His | |
| NM_003319.4:c.27119G>A (TTN) | NP_003310.4:p.Arg9040His | |
| NM_133378.4:c.46610G>A (TTN) | NP_596869.4:p.Arg15537His | |
| NM_133432.3:c.27494G>A (TTN) | NP_597676.3:p.Arg9165His | |
| NM_133437.4:c.27695G>A (TTN) | NP_597681.4:p.Arg9232His | |
| NR_038271.1:n.683-3392C>T (TTN-AS1) | ||
| NR_038272.1:n.3962C>T (TTN-AS1) | ||
| XM_011511729.1:c.53411G>A (TTN) | XP_011510031.1:p.Arg17804His | |
| XM_011511730.1:c.27305G>A (TTN) | XP_011510032.1:p.Arg9102His | |
| XM_011511731.1:c.27164G>A (TTN) | XP_011510033.1:p.Arg9055His | |
| XM_017004819.1:c.53207G>A (TTN) | XP_016860308.1:p.Arg17736His | |
| XM_017004820.1:c.48605G>A (TTN) | XP_016860309.1:p.Arg16202His | |
| XM_017004821.1:c.48602G>A (TTN) | XP_016860310.1:p.Arg16201His | |
| XM_017004822.1:c.45644G>A (TTN) | XP_016860311.1:p.Arg15215His | |
| XM_017004823.1:c.27260G>A (TTN) | XP_016860312.1:p.Arg9087His | |
| XM_024453094.1:c.48755G>A (TTN) | XP_024308862.1:p.Arg16252His | |
| XM_024453095.1:c.48752G>A (TTN) | XP_024308863.1:p.Arg16251His | |
| XM_024453096.1:c.48185G>A (TTN) | XP_024308864.1:p.Arg16062His | |
| XM_024453097.1:c.45527G>A (TTN) | XP_024308865.1:p.Arg15176His | |
| XM_024453098.1:c.45446G>A (TTN) | XP_024308866.1:p.Arg15149His | |
| XM_024453099.1:c.27209G>A (TTN) | XP_024308867.1:p.Arg9070His | |
| XM_024453100.1:c.17063G>A (TTN) | XP_024308868.1:p.Arg5688His |