Linked Data
ClinVar Variation Id:
284466
dbSNP Id:
rs375693396
ExAC:
2:179435332 C / T
gnomAD v2:
2-179435332-C-T
gnomAD v3:
2-178570605-C-T
gnomAD v4:
2-178570605-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570605C>T , CM000664.2:g.178570605C>T | GRCh38 |
| NC_000002.11:g.179435332C>T , CM000664.1:g.179435332C>T | GRCh37 |
| NC_000002.10:g.179143578C>T | NCBI36 |
| NG_011618.3:g.265198G>A , LRG_391:g.265198G>A | |
| NG_051363.1:g.52779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67823G>A (TTN) | ENSP00000343764.6:p.Arg22608His | |
| ENST00000342175.11:c.48908G>A (TTN) | ENSP00000340554.6:p.Arg16303His | |
| ENST00000359218.10:c.48707G>A (TTN) | ENSP00000352154.5:p.Arg16236His | |
| ENST00000342175.10:c.48908G>A (TTN) | ENSP00000340554.6:p.Arg16303His | |
| ENST00000342992.10:c.67823G>A (TTN) | ENSP00000343764.6:p.Arg22608His | |
| ENST00000359218.9:c.48707G>A (TTN) | ENSP00000352154.5:p.Arg16236His | |
| ENST00000460472.6:c.48332G>A (TTN) | ENSP00000434586.1:p.Arg16111His | |
| ENST00000589042.5:c.75527G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg25176His | |
| ENST00000591111.5:c.70604G>A (TTN) | ENSP00000465570.1:p.Arg23535His | |
| ENST00000615779.4:c.70604G>A (TTN) | ENSP00000483597.1:p.Arg23535His | |
| NM_001256850.1:c.70604G>A (TTN) | NP_001243779.1:p.Arg23535His | |
| NM_001267550.2:c.75527G>A (TTN) MANE Select | NP_001254479.2:p.Arg25176His | |
| NM_003319.4:c.48332G>A (TTN) | NP_003310.4:p.Arg16111His | |
| NM_133378.4:c.67823G>A (TTN) | NP_596869.4:p.Arg22608His | |
| NM_133432.3:c.48707G>A (TTN) | NP_597676.3:p.Arg16236His | |
| NM_133437.4:c.48908G>A (TTN) | NP_597681.4:p.Arg16303His | |
| NR_038271.1:n.447-695C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-11967C>T (TTN-AS1) | ||
| XM_011511729.1:c.74624G>A (TTN) | XP_011510031.1:p.Arg24875His | |
| XM_011511730.1:c.48518G>A (TTN) | XP_011510032.1:p.Arg16173His | |
| XM_011511731.1:c.48377G>A (TTN) | XP_011510033.1:p.Arg16126His | |
| XM_017004819.1:c.74420G>A (TTN) | XP_016860308.1:p.Arg24807His | |
| XM_017004820.1:c.69818G>A (TTN) | XP_016860309.1:p.Arg23273His | |
| XM_017004821.1:c.69815G>A (TTN) | XP_016860310.1:p.Arg23272His | |
| XM_017004822.1:c.66857G>A (TTN) | XP_016860311.1:p.Arg22286His | |
| XM_017004823.1:c.48473G>A (TTN) | XP_016860312.1:p.Arg16158His | |
| XM_024453094.1:c.69968G>A (TTN) | XP_024308862.1:p.Arg23323His | |
| XM_024453095.1:c.69965G>A (TTN) | XP_024308863.1:p.Arg23322His | |
| XM_024453096.1:c.69398G>A (TTN) | XP_024308864.1:p.Arg23133His | |
| XM_024453097.1:c.66740G>A (TTN) | XP_024308865.1:p.Arg22247His | |
| XM_024453098.1:c.66659G>A (TTN) | XP_024308866.1:p.Arg22220His | |
| XM_024453099.1:c.48422G>A (TTN) | XP_024308867.1:p.Arg16141His | |
| XM_024453100.1:c.38276G>A (TTN) | XP_024308868.1:p.Arg12759His |