Linked Data
ClinVar Variation Id:
202933
ClinVar RCV Id:
RCV000470222
RCV001132229
RCV001132231
RCV001129504
RCV001704926
RCV001132230
RCV001132232
RCV002354509
dbSNP Id:
rs375800916
ExAC:
2:179424439 C / T
gnomAD v2:
2-179424439-C-T
gnomAD v3:
2-178559712-C-T
gnomAD v4:
2-178559712-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559712C>T , CM000664.2:g.178559712C>T | GRCh38 |
| NC_000002.11:g.179424439C>T , CM000664.1:g.179424439C>T | GRCh37 |
| NC_000002.10:g.179132685C>T | NCBI36 |
| NG_011618.3:g.276091G>A , LRG_391:g.276091G>A | |
| NG_051363.1:g.41886C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78716G>A (TTN) | ENSP00000343764.6:p.Arg26239His | |
| ENST00000342175.11:c.59801G>A (TTN) | ENSP00000340554.6:p.Arg19934His | |
| ENST00000359218.10:c.59600G>A (TTN) | ENSP00000352154.5:p.Arg19867His | |
| ENST00000342175.10:c.59801G>A (TTN) | ENSP00000340554.6:p.Arg19934His | |
| ENST00000342992.10:c.78716G>A (TTN) | ENSP00000343764.6:p.Arg26239His | |
| ENST00000359218.9:c.59600G>A (TTN) | ENSP00000352154.5:p.Arg19867His | |
| ENST00000460472.6:c.59225G>A (TTN) | ENSP00000434586.1:p.Arg19742His | |
| ENST00000589042.5:c.86420G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg28807His | |
| ENST00000591111.5:c.81497G>A (TTN) | ENSP00000465570.1:p.Arg27166His | |
| ENST00000615779.4:c.81497G>A (TTN) | ENSP00000483597.1:p.Arg27166His | |
| NM_001256850.1:c.81497G>A (TTN) | NP_001243779.1:p.Arg27166His | |
| NM_001267550.2:c.86420G>A (TTN) MANE Select | NP_001254479.2:p.Arg28807His | |
| NM_003319.4:c.59225G>A (TTN) | NP_003310.4:p.Arg19742His | |
| NM_133378.4:c.78716G>A (TTN) | NP_596869.4:p.Arg26239His | |
| NM_133432.3:c.59600G>A (TTN) | NP_597676.3:p.Arg19867His | |
| NM_133437.4:c.59801G>A (TTN) | NP_597681.4:p.Arg19934His | |
| NR_038271.1:n.447-11588C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+17351C>T (TTN-AS1) | ||
| XM_011511729.1:c.85517G>A (TTN) | XP_011510031.1:p.Arg28506His | |
| XM_011511730.1:c.59411G>A (TTN) | XP_011510032.1:p.Arg19804His | |
| XM_011511731.1:c.59270G>A (TTN) | XP_011510033.1:p.Arg19757His | |
| XM_017004819.1:c.85313G>A (TTN) | XP_016860308.1:p.Arg28438His | |
| XM_017004820.1:c.80711G>A (TTN) | XP_016860309.1:p.Arg26904His | |
| XM_017004821.1:c.80708G>A (TTN) | XP_016860310.1:p.Arg26903His | |
| XM_017004822.1:c.77750G>A (TTN) | XP_016860311.1:p.Arg25917His | |
| XM_017004823.1:c.59366G>A (TTN) | XP_016860312.1:p.Arg19789His | |
| XM_024453094.1:c.80861G>A (TTN) | XP_024308862.1:p.Arg26954His | |
| XM_024453095.1:c.80858G>A (TTN) | XP_024308863.1:p.Arg26953His | |
| XM_024453096.1:c.80291G>A (TTN) | XP_024308864.1:p.Arg26764His | |
| XM_024453097.1:c.77633G>A (TTN) | XP_024308865.1:p.Arg25878His | |
| XM_024453098.1:c.77552G>A (TTN) | XP_024308866.1:p.Arg25851His | |
| XM_024453099.1:c.59315G>A (TTN) | XP_024308867.1:p.Arg19772His | |
| XM_024453100.1:c.49169G>A (TTN) | XP_024308868.1:p.Arg16390His |