Linked Data
ClinVar Variation Id:
202309
dbSNP Id:
rs376080116
ExAC:
2:179473407 C / T
gnomAD v2:
2-179473407-C-T
gnomAD v3:
2-178608680-C-T
gnomAD v4:
2-178608680-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608680C>T , CM000664.2:g.178608680C>T | GRCh38 |
| NC_000002.11:g.179473407C>T , CM000664.1:g.179473407C>T | GRCh37 |
| NC_000002.10:g.179181652C>T | NCBI36 |
| NG_011618.3:g.227123G>A , LRG_391:g.227123G>A | |
| NG_051363.1:g.90854C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44627G>A (TTN) | ENSP00000343764.6:p.Arg14876His | |
| ENST00000342175.11:c.25712G>A (TTN) | ENSP00000340554.6:p.Arg8571His | |
| ENST00000359218.10:c.25511G>A (TTN) | ENSP00000352154.5:p.Arg8504His | |
| ENST00000342175.10:c.25712G>A (TTN) | ENSP00000340554.6:p.Arg8571His | |
| ENST00000342992.10:c.44627G>A (TTN) | ENSP00000343764.6:p.Arg14876His | |
| ENST00000359218.9:c.25511G>A (TTN) | ENSP00000352154.5:p.Arg8504His | |
| ENST00000460472.6:c.25136G>A (TTN) | ENSP00000434586.1:p.Arg8379His | |
| ENST00000589042.5:c.52331G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17444His | |
| ENST00000591111.5:c.47408G>A (TTN) | ENSP00000465570.1:p.Arg15803His | |
| ENST00000615779.4:c.47408G>A (TTN) | ENSP00000483597.1:p.Arg15803His | |
| NM_001256850.1:c.47408G>A (TTN) | NP_001243779.1:p.Arg15803His | |
| NM_001267550.2:c.52331G>A (TTN) MANE Select | NP_001254479.2:p.Arg17444His | |
| NM_003319.4:c.25136G>A (TTN) | NP_003310.4:p.Arg8379His | |
| NM_133378.4:c.44627G>A (TTN) | NP_596869.4:p.Arg14876His | |
| NM_133432.3:c.25511G>A (TTN) | NP_597676.3:p.Arg8504His | |
| NM_133437.4:c.25712G>A (TTN) | NP_597681.4:p.Arg8571His | |
| NR_038271.1:n.782+414C>T (TTN-AS1) | ||
| XM_011511729.1:c.51428G>A (TTN) | XP_011510031.1:p.Arg17143His | |
| XM_011511730.1:c.25322G>A (TTN) | XP_011510032.1:p.Arg8441His | |
| XM_011511731.1:c.25181G>A (TTN) | XP_011510033.1:p.Arg8394His | |
| XM_017004819.1:c.51224G>A (TTN) | XP_016860308.1:p.Arg17075His | |
| XM_017004820.1:c.46622G>A (TTN) | XP_016860309.1:p.Arg15541His | |
| XM_017004821.1:c.46619G>A (TTN) | XP_016860310.1:p.Arg15540His | |
| XM_017004822.1:c.43661G>A (TTN) | XP_016860311.1:p.Arg14554His | |
| XM_017004823.1:c.25277G>A (TTN) | XP_016860312.1:p.Arg8426His | |
| XM_024453094.1:c.46772G>A (TTN) | XP_024308862.1:p.Arg15591His | |
| XM_024453095.1:c.46769G>A (TTN) | XP_024308863.1:p.Arg15590His | |
| XM_024453096.1:c.46202G>A (TTN) | XP_024308864.1:p.Arg15401His | |
| XM_024453097.1:c.43544G>A (TTN) | XP_024308865.1:p.Arg14515His | |
| XM_024453098.1:c.43463G>A (TTN) | XP_024308866.1:p.Arg14488His | |
| XM_024453099.1:c.25226G>A (TTN) | XP_024308867.1:p.Arg8409His | |
| XM_024453100.1:c.15080G>A (TTN) | XP_024308868.1:p.Arg5027His |