Linked Data
ClinVar Variation Id:
506396
ClinVar RCV Id:
RCV000608835
RCV000861017
RCV001704702
RCV001840692
RCV001840689
RCV001840691
RCV001840690
RCV002350441
RCV004543405
dbSNP Id:
rs775499341
ExAC:
2:179427778 C / T
gnomAD v2:
2-179427778-C-T
gnomAD v3:
2-178563051-C-T
gnomAD v4:
2-178563051-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178563051C>T , CM000664.2:g.178563051C>T | GRCh38 |
| NC_000002.11:g.179427778C>T , CM000664.1:g.179427778C>T | GRCh37 |
| NC_000002.10:g.179136024C>T | NCBI36 |
| NG_011618.3:g.272752G>A , LRG_391:g.272752G>A | |
| NG_051363.1:g.45225C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.75377G>A (TTN) | ENSP00000343764.6:p.Arg25126His | |
| ENST00000342175.11:c.56462G>A (TTN) | ENSP00000340554.6:p.Arg18821His | |
| ENST00000359218.10:c.56261G>A (TTN) | ENSP00000352154.5:p.Arg18754His | |
| ENST00000342175.10:c.56462G>A (TTN) | ENSP00000340554.6:p.Arg18821His | |
| ENST00000342992.10:c.75377G>A (TTN) | ENSP00000343764.6:p.Arg25126His | |
| ENST00000359218.9:c.56261G>A (TTN) | ENSP00000352154.5:p.Arg18754His | |
| ENST00000460472.6:c.55886G>A (TTN) | ENSP00000434586.1:p.Arg18629His | |
| ENST00000589042.5:c.83081G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg27694His | |
| ENST00000591111.5:c.78158G>A (TTN) | ENSP00000465570.1:p.Arg26053His | |
| ENST00000615779.4:c.78158G>A (TTN) | ENSP00000483597.1:p.Arg26053His | |
| NM_001256850.1:c.78158G>A (TTN) | NP_001243779.1:p.Arg26053His | |
| NM_001267550.2:c.83081G>A (TTN) MANE Select | NP_001254479.2:p.Arg27694His | |
| NM_003319.4:c.55886G>A (TTN) | NP_003310.4:p.Arg18629His | |
| NM_133378.4:c.75377G>A (TTN) | NP_596869.4:p.Arg25126His | |
| NM_133432.3:c.56261G>A (TTN) | NP_597676.3:p.Arg18754His | |
| NM_133437.4:c.56462G>A (TTN) | NP_597681.4:p.Arg18821His | |
| NR_038271.1:n.447-8249C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-19521C>T (TTN-AS1) | ||
| XM_011511729.1:c.82178G>A (TTN) | XP_011510031.1:p.Arg27393His | |
| XM_011511730.1:c.56072G>A (TTN) | XP_011510032.1:p.Arg18691His | |
| XM_011511731.1:c.55931G>A (TTN) | XP_011510033.1:p.Arg18644His | |
| XM_017004819.1:c.81974G>A (TTN) | XP_016860308.1:p.Arg27325His | |
| XM_017004820.1:c.77372G>A (TTN) | XP_016860309.1:p.Arg25791His | |
| XM_017004821.1:c.77369G>A (TTN) | XP_016860310.1:p.Arg25790His | |
| XM_017004822.1:c.74411G>A (TTN) | XP_016860311.1:p.Arg24804His | |
| XM_017004823.1:c.56027G>A (TTN) | XP_016860312.1:p.Arg18676His | |
| XM_024453094.1:c.77522G>A (TTN) | XP_024308862.1:p.Arg25841His | |
| XM_024453095.1:c.77519G>A (TTN) | XP_024308863.1:p.Arg25840His | |
| XM_024453096.1:c.76952G>A (TTN) | XP_024308864.1:p.Arg25651His | |
| XM_024453097.1:c.74294G>A (TTN) | XP_024308865.1:p.Arg24765His | |
| XM_024453098.1:c.74213G>A (TTN) | XP_024308866.1:p.Arg24738His | |
| XM_024453099.1:c.55976G>A (TTN) | XP_024308867.1:p.Arg18659His | |
| XM_024453100.1:c.45830G>A (TTN) | XP_024308868.1:p.Arg15277His |