Linked Data
ClinVar Variation Id:
535413
dbSNP Id:
rs1553518208
gnomAD v3:
2-178543666-A-G
gnomAD v4:
2-178543666-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543666A>G , CM000664.2:g.178543666A>G | GRCh38 |
| NC_000002.11:g.179408393A>G , CM000664.1:g.179408393A>G | GRCh37 |
| NC_000002.10:g.179116639A>G | NCBI36 |
| NG_011618.3:g.292137T>C , LRG_391:g.292137T>C | |
| NG_051363.1:g.25840A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.88607-4T>C (TTN) | ENSP00000343764.6:n.88607-4T>C | |
| ENST00000342175.11:c.69692-4T>C (TTN) | ENSP00000340554.6:n.69692-4T>C | |
| ENST00000359218.10:c.69491-4T>C (TTN) | ENSP00000352154.5:n.69491-4T>C | |
| ENST00000342175.10:c.69692-4T>C (TTN) | ENSP00000340554.6:n.69692-4T>C | |
| ENST00000342992.10:c.88607-4T>C (TTN) | ENSP00000343764.6:n.88607-4T>C | |
| ENST00000359218.9:c.69491-4T>C (TTN) | ENSP00000352154.5:n.69491-4T>C | |
| ENST00000460472.6:c.69116-4T>C (TTN) | ENSP00000434586.1:n.69116-4T>C | |
| ENST00000589042.5:c.96311-4T>C (TTN) MANE Select | ENSP00000467141.1:n.96311-4T>C | |
| ENST00000591111.5:c.91388-4T>C (TTN) | ENSP00000465570.1:n.91388-4T>C | |
| ENST00000615779.4:c.91388-4T>C (TTN) | ENSP00000483597.1:n.91388-4T>C | |
| NM_001256850.1:c.91388-4T>C (TTN) | NP_001243779.1:n.91388-4T>C | |
| NM_001267550.2:c.96311-4T>C (TTN) MANE Select | NP_001254479.2:n.96311-4T>C | |
| NM_003319.4:c.69116-4T>C (TTN) | NP_003310.4:n.69116-4T>C | |
| NM_133378.4:c.88607-4T>C (TTN) | NP_596869.4:n.88607-4T>C | |
| NM_133432.3:c.69491-4T>C (TTN) | NP_597676.3:n.69491-4T>C | |
| NM_133437.4:c.69692-4T>C (TTN) | NP_597681.4:n.69692-4T>C | |
| NR_038271.1:n.446+20030A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+1305A>G (TTN-AS1) | ||
| XM_011511729.1:c.95408-4T>C (TTN) | XP_011510031.1:n.95408-4T>C | |
| XM_011511730.1:c.69302-4T>C (TTN) | XP_011510032.1:n.69302-4T>C | |
| XM_011511731.1:c.69161-4T>C (TTN) | XP_011510033.1:n.69161-4T>C | |
| XM_017004819.1:c.95204-4T>C (TTN) | XP_016860308.1:n.95204-4T>C | |
| XM_017004820.1:c.90602-4T>C (TTN) | XP_016860309.1:n.90602-4T>C | |
| XM_017004821.1:c.90599-4T>C (TTN) | XP_016860310.1:n.90599-4T>C | |
| XM_017004822.1:c.87641-4T>C (TTN) | XP_016860311.1:n.87641-4T>C | |
| XM_017004823.1:c.69257-4T>C (TTN) | XP_016860312.1:n.69257-4T>C | |
| XM_024453094.1:c.90752-4T>C (TTN) | XP_024308862.1:n.90752-4T>C | |
| XM_024453095.1:c.90749-4T>C (TTN) | XP_024308863.1:n.90749-4T>C | |
| XM_024453096.1:c.90182-4T>C (TTN) | XP_024308864.1:n.90182-4T>C | |
| XM_024453097.1:c.87524-4T>C (TTN) | XP_024308865.1:n.87524-4T>C | |
| XM_024453098.1:c.87443-4T>C (TTN) | XP_024308866.1:n.87443-4T>C | |
| XM_024453099.1:c.69206-4T>C (TTN) | XP_024308867.1:n.69206-4T>C | |
| XM_024453100.1:c.59060-4T>C (TTN) | XP_024308868.1:n.59060-4T>C |