Linked Data
ClinVar Variation Id:
196088
dbSNP Id:
rs376382707
ExAC:
2:179436945 C / T
gnomAD v2:
2-179436945-C-T
gnomAD v3:
2-178572218-C-T
gnomAD v4:
2-178572218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572218C>T , CM000664.2:g.178572218C>T | GRCh38 |
| NC_000002.11:g.179436945C>T , CM000664.1:g.179436945C>T | GRCh37 |
| NC_000002.10:g.179145191C>T | NCBI36 |
| NG_011618.3:g.263585G>A , LRG_391:g.263585G>A | |
| NG_051363.1:g.54392C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66210G>A (TTN) | ENSP00000343764.6:p.Glu22070= | |
| ENST00000342175.11:c.47295G>A (TTN) | ENSP00000340554.6:p.Glu15765= | |
| ENST00000359218.10:c.47094G>A (TTN) | ENSP00000352154.5:p.Glu15698= | |
| ENST00000342175.10:c.47295G>A (TTN) | ENSP00000340554.6:p.Glu15765= | |
| ENST00000342992.10:c.66210G>A (TTN) | ENSP00000343764.6:p.Glu22070= | |
| ENST00000359218.9:c.47094G>A (TTN) | ENSP00000352154.5:p.Glu15698= | |
| ENST00000460472.6:c.46719G>A (TTN) | ENSP00000434586.1:p.Glu15573= | |
| ENST00000589042.5:c.73914G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu24638= | |
| ENST00000591111.5:c.68991G>A (TTN) | ENSP00000465570.1:p.Glu22997= | |
| ENST00000615779.4:c.68991G>A (TTN) | ENSP00000483597.1:p.Glu22997= | |
| NM_001256850.1:c.68991G>A (TTN) | NP_001243779.1:p.Glu22997= | |
| NM_001267550.2:c.73914G>A (TTN) MANE Select | NP_001254479.2:p.Glu24638= | |
| NM_003319.4:c.46719G>A (TTN) | NP_003310.4:p.Glu15573= | |
| NM_133378.4:c.66210G>A (TTN) | NP_596869.4:p.Glu22070= | |
| NM_133432.3:c.47094G>A (TTN) | NP_597676.3:p.Glu15698= | |
| NM_133437.4:c.47295G>A (TTN) | NP_597681.4:p.Glu15765= | |
| NR_038271.1:n.596+769C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-10354C>T (TTN-AS1) | ||
| XM_011511729.1:c.73011G>A (TTN) | XP_011510031.1:p.Glu24337= | |
| XM_011511730.1:c.46905G>A (TTN) | XP_011510032.1:p.Glu15635= | |
| XM_011511731.1:c.46764G>A (TTN) | XP_011510033.1:p.Glu15588= | |
| XM_017004819.1:c.72807G>A (TTN) | XP_016860308.1:p.Glu24269= | |
| XM_017004820.1:c.68205G>A (TTN) | XP_016860309.1:p.Glu22735= | |
| XM_017004821.1:c.68202G>A (TTN) | XP_016860310.1:p.Glu22734= | |
| XM_017004822.1:c.65244G>A (TTN) | XP_016860311.1:p.Glu21748= | |
| XM_017004823.1:c.46860G>A (TTN) | XP_016860312.1:p.Glu15620= | |
| XM_024453094.1:c.68355G>A (TTN) | XP_024308862.1:p.Glu22785= | |
| XM_024453095.1:c.68352G>A (TTN) | XP_024308863.1:p.Glu22784= | |
| XM_024453096.1:c.67785G>A (TTN) | XP_024308864.1:p.Glu22595= | |
| XM_024453097.1:c.65127G>A (TTN) | XP_024308865.1:p.Glu21709= | |
| XM_024453098.1:c.65046G>A (TTN) | XP_024308866.1:p.Glu21682= | |
| XM_024453099.1:c.46809G>A (TTN) | XP_024308867.1:p.Glu15603= | |
| XM_024453100.1:c.36663G>A (TTN) | XP_024308868.1:p.Glu12221= |