Linked Data
ClinVar Variation Id:
535037
dbSNP Id:
rs753798236
ExAC:
2:179473206 T / G
gnomAD v2:
2-179473206-T-G
gnomAD v3:
2-178608479-T-G
gnomAD v4:
2-178608479-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608479T>G , CM000664.2:g.178608479T>G | GRCh38 |
| NC_000002.11:g.179473206T>G , CM000664.1:g.179473206T>G | GRCh37 |
| NC_000002.10:g.179181451T>G | NCBI36 |
| NG_011618.3:g.227324A>C , LRG_391:g.227324A>C | |
| NG_051363.1:g.90653T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44702-2A>C (TTN) | ENSP00000343764.6:n.44702-2A>C | |
| ENST00000342175.11:c.25787-2A>C (TTN) | ENSP00000340554.6:n.25787-2A>C | |
| ENST00000359218.10:c.25586-2A>C (TTN) | ENSP00000352154.5:n.25586-2A>C | |
| ENST00000342175.10:c.25787-2A>C (TTN) | ENSP00000340554.6:n.25787-2A>C | |
| ENST00000342992.10:c.44702-2A>C (TTN) | ENSP00000343764.6:n.44702-2A>C | |
| ENST00000359218.9:c.25586-2A>C (TTN) | ENSP00000352154.5:n.25586-2A>C | |
| ENST00000460472.6:c.25211-2A>C (TTN) | ENSP00000434586.1:n.25211-2A>C | |
| ENST00000589042.5:c.52406-2A>C (TTN) MANE Select | ENSP00000467141.1:n.52406-2A>C | |
| ENST00000591111.5:c.47483-2A>C (TTN) | ENSP00000465570.1:n.47483-2A>C | |
| ENST00000615779.4:c.47483-2A>C (TTN) | ENSP00000483597.1:n.47483-2A>C | |
| NM_001256850.1:c.47483-2A>C (TTN) | NP_001243779.1:n.47483-2A>C | |
| NM_001267550.2:c.52406-2A>C (TTN) MANE Select | NP_001254479.2:n.52406-2A>C | |
| NM_003319.4:c.25211-2A>C (TTN) | NP_003310.4:n.25211-2A>C | |
| NM_133378.4:c.44702-2A>C (TTN) | NP_596869.4:n.44702-2A>C | |
| NM_133432.3:c.25586-2A>C (TTN) | NP_597676.3:n.25586-2A>C | |
| NM_133437.4:c.25787-2A>C (TTN) | NP_597681.4:n.25787-2A>C | |
| NR_038271.1:n.782+213T>G (TTN-AS1) | ||
| XM_011511729.1:c.51503-2A>C (TTN) | XP_011510031.1:n.51503-2A>C | |
| XM_011511730.1:c.25397-2A>C (TTN) | XP_011510032.1:n.25397-2A>C | |
| XM_011511731.1:c.25256-2A>C (TTN) | XP_011510033.1:n.25256-2A>C | |
| XM_017004819.1:c.51299-2A>C (TTN) | XP_016860308.1:n.51299-2A>C | |
| XM_017004820.1:c.46697-2A>C (TTN) | XP_016860309.1:n.46697-2A>C | |
| XM_017004821.1:c.46694-2A>C (TTN) | XP_016860310.1:n.46694-2A>C | |
| XM_017004822.1:c.43736-2A>C (TTN) | XP_016860311.1:n.43736-2A>C | |
| XM_017004823.1:c.25352-2A>C (TTN) | XP_016860312.1:n.25352-2A>C | |
| XM_024453094.1:c.46847-2A>C (TTN) | XP_024308862.1:n.46847-2A>C | |
| XM_024453095.1:c.46844-2A>C (TTN) | XP_024308863.1:n.46844-2A>C | |
| XM_024453096.1:c.46277-2A>C (TTN) | XP_024308864.1:n.46277-2A>C | |
| XM_024453097.1:c.43619-2A>C (TTN) | XP_024308865.1:n.43619-2A>C | |
| XM_024453098.1:c.43538-2A>C (TTN) | XP_024308866.1:n.43538-2A>C | |
| XM_024453099.1:c.25301-2A>C (TTN) | XP_024308867.1:n.25301-2A>C | |
| XM_024453100.1:c.15155-2A>C (TTN) | XP_024308868.1:n.15155-2A>C |