Linked Data
ClinVar Variation Id:
287661
dbSNP Id:
rs756339648
ExAC:
2:179469713 C / T
gnomAD v2:
2-179469713-C-T
gnomAD v4:
2-178604986-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604986C>T , CM000664.2:g.178604986C>T | GRCh38 |
| NC_000002.11:g.179469713C>T , CM000664.1:g.179469713C>T | GRCh37 |
| NC_000002.10:g.179177958C>T | NCBI36 |
| NG_011618.3:g.230817G>A , LRG_391:g.230817G>A | |
| NG_051363.1:g.87160C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46486+1G>A (TTN) | ENSP00000343764.6:n.46486+1G>A | |
| ENST00000342175.11:c.27571+1G>A (TTN) | ENSP00000340554.6:n.27571+1G>A | |
| ENST00000359218.10:c.27370+1G>A (TTN) | ENSP00000352154.5:n.27370+1G>A | |
| ENST00000342175.10:c.27571+1G>A (TTN) | ENSP00000340554.6:n.27571+1G>A | |
| ENST00000342992.10:c.46486+1G>A (TTN) | ENSP00000343764.6:n.46486+1G>A | |
| ENST00000359218.9:c.27370+1G>A (TTN) | ENSP00000352154.5:n.27370+1G>A | |
| ENST00000460472.6:c.26995+1G>A (TTN) | ENSP00000434586.1:n.26995+1G>A | |
| ENST00000589042.5:c.54190+1G>A (TTN) MANE Select | ENSP00000467141.1:n.54190+1G>A | |
| ENST00000591111.5:c.49267+1G>A (TTN) | ENSP00000465570.1:n.49267+1G>A | |
| ENST00000615779.4:c.49267+1G>A (TTN) | ENSP00000483597.1:n.49267+1G>A | |
| NM_001256850.1:c.49267+1G>A (TTN) | NP_001243779.1:n.49267+1G>A | |
| NM_001267550.2:c.54190+1G>A (TTN) MANE Select | NP_001254479.2:n.54190+1G>A | |
| NM_003319.4:c.26995+1G>A (TTN) | NP_003310.4:n.26995+1G>A | |
| NM_133378.4:c.46486+1G>A (TTN) | NP_596869.4:n.46486+1G>A | |
| NM_133432.3:c.27370+1G>A (TTN) | NP_597676.3:n.27370+1G>A | |
| NM_133437.4:c.27571+1G>A (TTN) | NP_597681.4:n.27571+1G>A | |
| NR_038271.1:n.683-3181C>T (TTN-AS1) | ||
| NR_038272.1:n.4173C>T (TTN-AS1) | ||
| XM_011511729.1:c.53287+1G>A (TTN) | XP_011510031.1:n.53287+1G>A | |
| XM_011511730.1:c.27181+1G>A (TTN) | XP_011510032.1:n.27181+1G>A | |
| XM_011511731.1:c.27040+1G>A (TTN) | XP_011510033.1:n.27040+1G>A | |
| XM_017004819.1:c.53083+1G>A (TTN) | XP_016860308.1:n.53083+1G>A | |
| XM_017004820.1:c.48481+1G>A (TTN) | XP_016860309.1:n.48481+1G>A | |
| XM_017004821.1:c.48478+1G>A (TTN) | XP_016860310.1:n.48478+1G>A | |
| XM_017004822.1:c.45520+1G>A (TTN) | XP_016860311.1:n.45520+1G>A | |
| XM_017004823.1:c.27136+1G>A (TTN) | XP_016860312.1:n.27136+1G>A | |
| XM_024453094.1:c.48631+1G>A (TTN) | XP_024308862.1:n.48631+1G>A | |
| XM_024453095.1:c.48628+1G>A (TTN) | XP_024308863.1:n.48628+1G>A | |
| XM_024453096.1:c.48061+1G>A (TTN) | XP_024308864.1:n.48061+1G>A | |
| XM_024453097.1:c.45403+1G>A (TTN) | XP_024308865.1:n.45403+1G>A | |
| XM_024453098.1:c.45322+1G>A (TTN) | XP_024308866.1:n.45322+1G>A | |
| XM_024453099.1:c.27085+1G>A (TTN) | XP_024308867.1:n.27085+1G>A | |
| XM_024453100.1:c.16939+1G>A (TTN) | XP_024308868.1:n.16939+1G>A |