Linked Data
ClinVar Variation Id:
196092
dbSNP Id:
rs545556079
ExAC:
2:179436986 A / G
gnomAD v2:
2-179436986-A-G
gnomAD v3:
2-178572259-A-G
gnomAD v4:
2-178572259-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572259A>G , CM000664.2:g.178572259A>G | GRCh38 |
| NC_000002.11:g.179436986A>G , CM000664.1:g.179436986A>G | GRCh37 |
| NC_000002.10:g.179145232A>G | NCBI36 |
| NG_011618.3:g.263544T>C , LRG_391:g.263544T>C | |
| NG_051363.1:g.54433A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66169T>C (TTN) | ENSP00000343764.6:p.Leu22057= | |
| ENST00000342175.11:c.47254T>C (TTN) | ENSP00000340554.6:p.Leu15752= | |
| ENST00000359218.10:c.47053T>C (TTN) | ENSP00000352154.5:p.Leu15685= | |
| ENST00000342175.10:c.47254T>C (TTN) | ENSP00000340554.6:p.Leu15752= | |
| ENST00000342992.10:c.66169T>C (TTN) | ENSP00000343764.6:p.Leu22057= | |
| ENST00000359218.9:c.47053T>C (TTN) | ENSP00000352154.5:p.Leu15685= | |
| ENST00000460472.6:c.46678T>C (TTN) | ENSP00000434586.1:p.Leu15560= | |
| ENST00000589042.5:c.73873T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu24625= | |
| ENST00000591111.5:c.68950T>C (TTN) | ENSP00000465570.1:p.Leu22984= | |
| ENST00000615779.4:c.68950T>C (TTN) | ENSP00000483597.1:p.Leu22984= | |
| NM_001256850.1:c.68950T>C (TTN) | NP_001243779.1:p.Leu22984= | |
| NM_001267550.2:c.73873T>C (TTN) MANE Select | NP_001254479.2:p.Leu24625= | |
| NM_003319.4:c.46678T>C (TTN) | NP_003310.4:p.Leu15560= | |
| NM_133378.4:c.66169T>C (TTN) | NP_596869.4:p.Leu22057= | |
| NM_133432.3:c.47053T>C (TTN) | NP_597676.3:p.Leu15685= | |
| NM_133437.4:c.47254T>C (TTN) | NP_597681.4:p.Leu15752= | |
| NR_038271.1:n.596+810A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-10313A>G (TTN-AS1) | ||
| XM_011511729.1:c.72970T>C (TTN) | XP_011510031.1:p.Leu24324= | |
| XM_011511730.1:c.46864T>C (TTN) | XP_011510032.1:p.Leu15622= | |
| XM_011511731.1:c.46723T>C (TTN) | XP_011510033.1:p.Leu15575= | |
| XM_017004819.1:c.72766T>C (TTN) | XP_016860308.1:p.Leu24256= | |
| XM_017004820.1:c.68164T>C (TTN) | XP_016860309.1:p.Leu22722= | |
| XM_017004821.1:c.68161T>C (TTN) | XP_016860310.1:p.Leu22721= | |
| XM_017004822.1:c.65203T>C (TTN) | XP_016860311.1:p.Leu21735= | |
| XM_017004823.1:c.46819T>C (TTN) | XP_016860312.1:p.Leu15607= | |
| XM_024453094.1:c.68314T>C (TTN) | XP_024308862.1:p.Leu22772= | |
| XM_024453095.1:c.68311T>C (TTN) | XP_024308863.1:p.Leu22771= | |
| XM_024453096.1:c.67744T>C (TTN) | XP_024308864.1:p.Leu22582= | |
| XM_024453097.1:c.65086T>C (TTN) | XP_024308865.1:p.Leu21696= | |
| XM_024453098.1:c.65005T>C (TTN) | XP_024308866.1:p.Leu21669= | |
| XM_024453099.1:c.46768T>C (TTN) | XP_024308867.1:p.Leu15590= | |
| XM_024453100.1:c.36622T>C (TTN) | XP_024308868.1:p.Leu12208= |