Linked Data
ClinVar Variation Id:
178193
dbSNP Id:
rs75948012
ExAC:
2:179440803 T / C
gnomAD v2:
2-179440803-T-C
gnomAD v3:
2-178576076-T-C
gnomAD v4:
2-178576076-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576076T>C , CM000664.2:g.178576076T>C | GRCh38 |
| NC_000002.11:g.179440803T>C , CM000664.1:g.179440803T>C | GRCh37 |
| NC_000002.10:g.179149049T>C | NCBI36 |
| NG_011618.3:g.259727A>G , LRG_391:g.259727A>G | |
| NG_051363.1:g.58250T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.62352A>G (TTN) | ENSP00000343764.6:p.Arg20784= | |
| ENST00000342175.11:c.43437A>G (TTN) | ENSP00000340554.6:p.Arg14479= | |
| ENST00000359218.10:c.43236A>G (TTN) | ENSP00000352154.5:p.Arg14412= | |
| ENST00000342175.10:c.43437A>G (TTN) | ENSP00000340554.6:p.Arg14479= | |
| ENST00000342992.10:c.62352A>G (TTN) | ENSP00000343764.6:p.Arg20784= | |
| ENST00000359218.9:c.43236A>G (TTN) | ENSP00000352154.5:p.Arg14412= | |
| ENST00000460472.6:c.42861A>G (TTN) | ENSP00000434586.1:p.Arg14287= | |
| ENST00000589042.5:c.70056A>G (TTN) MANE Select | ENSP00000467141.1:p.Arg23352= | |
| ENST00000591111.5:c.65133A>G (TTN) | ENSP00000465570.1:p.Arg21711= | |
| ENST00000615779.4:c.65133A>G (TTN) | ENSP00000483597.1:p.Arg21711= | |
| NM_001256850.1:c.65133A>G (TTN) | NP_001243779.1:p.Arg21711= | |
| NM_001267550.2:c.70056A>G (TTN) MANE Select | NP_001254479.2:p.Arg23352= | |
| NM_003319.4:c.42861A>G (TTN) | NP_003310.4:p.Arg14287= | |
| NM_133378.4:c.62352A>G (TTN) | NP_596869.4:p.Arg20784= | |
| NM_133432.3:c.43236A>G (TTN) | NP_597676.3:p.Arg14412= | |
| NM_133437.4:c.43437A>G (TTN) | NP_597681.4:p.Arg14479= | |
| NR_038271.1:n.596+4627T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-6496T>C (TTN-AS1) | ||
| XM_011511729.1:c.69153A>G (TTN) | XP_011510031.1:p.Arg23051= | |
| XM_011511730.1:c.43047A>G (TTN) | XP_011510032.1:p.Arg14349= | |
| XM_011511731.1:c.42906A>G (TTN) | XP_011510033.1:p.Arg14302= | |
| XM_017004819.1:c.68949A>G (TTN) | XP_016860308.1:p.Arg22983= | |
| XM_017004820.1:c.64347A>G (TTN) | XP_016860309.1:p.Arg21449= | |
| XM_017004821.1:c.64344A>G (TTN) | XP_016860310.1:p.Arg21448= | |
| XM_017004822.1:c.61386A>G (TTN) | XP_016860311.1:p.Arg20462= | |
| XM_017004823.1:c.43002A>G (TTN) | XP_016860312.1:p.Arg14334= | |
| XM_024453094.1:c.64497A>G (TTN) | XP_024308862.1:p.Arg21499= | |
| XM_024453095.1:c.64494A>G (TTN) | XP_024308863.1:p.Arg21498= | |
| XM_024453096.1:c.63927A>G (TTN) | XP_024308864.1:p.Arg21309= | |
| XM_024453097.1:c.61269A>G (TTN) | XP_024308865.1:p.Arg20423= | |
| XM_024453098.1:c.61188A>G (TTN) | XP_024308866.1:p.Arg20396= | |
| XM_024453099.1:c.42951A>G (TTN) | XP_024308867.1:p.Arg14317= | |
| XM_024453100.1:c.32805A>G (TTN) | XP_024308868.1:p.Arg10935= |