Linked Data
ClinVar Variation Id:
332733
dbSNP Id:
rs777636306
ExAC:
2:179417383 T / C
gnomAD v2:
2-179417383-T-C
gnomAD v4:
2-178552656-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552656T>C , CM000664.2:g.178552656T>C | GRCh38 |
| NC_000002.11:g.179417383T>C , CM000664.1:g.179417383T>C | GRCh37 |
| NC_000002.10:g.179125629T>C | NCBI36 |
| NG_011618.3:g.283147A>G , LRG_391:g.283147A>G | |
| NG_051363.1:g.34830T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.82540A>G (TTN) | ENSP00000343764.6:p.Ile27514Val | |
| ENST00000342175.11:c.63625A>G (TTN) | ENSP00000340554.6:p.Ile21209Val | |
| ENST00000359218.10:c.63424A>G (TTN) | ENSP00000352154.5:p.Ile21142Val | |
| ENST00000342175.10:c.63625A>G (TTN) | ENSP00000340554.6:p.Ile21209Val | |
| ENST00000342992.10:c.82540A>G (TTN) | ENSP00000343764.6:p.Ile27514Val | |
| ENST00000359218.9:c.63424A>G (TTN) | ENSP00000352154.5:p.Ile21142Val | |
| ENST00000460472.6:c.63049A>G (TTN) | ENSP00000434586.1:p.Ile21017Val | |
| ENST00000589042.5:c.90244A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile30082Val | |
| ENST00000591111.5:c.85321A>G (TTN) | ENSP00000465570.1:p.Ile28441Val | |
| ENST00000615779.4:c.85321A>G (TTN) | ENSP00000483597.1:p.Ile28441Val | |
| NM_001256850.1:c.85321A>G (TTN) | NP_001243779.1:p.Ile28441Val | |
| NM_001267550.2:c.90244A>G (TTN) MANE Select | NP_001254479.2:p.Ile30082Val | |
| NM_003319.4:c.63049A>G (TTN) | NP_003310.4:p.Ile21017Val | |
| NM_133378.4:c.82540A>G (TTN) | NP_596869.4:p.Ile27514Val | |
| NM_133432.3:c.63424A>G (TTN) | NP_597676.3:p.Ile21142Val | |
| NM_133437.4:c.63625A>G (TTN) | NP_597681.4:p.Ile21209Val | |
| NR_038271.1:n.447-18644T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+10295T>C (TTN-AS1) | ||
| XM_011511729.1:c.89341A>G (TTN) | XP_011510031.1:p.Ile29781Val | |
| XM_011511730.1:c.63235A>G (TTN) | XP_011510032.1:p.Ile21079Val | |
| XM_011511731.1:c.63094A>G (TTN) | XP_011510033.1:p.Ile21032Val | |
| XM_017004819.1:c.89137A>G (TTN) | XP_016860308.1:p.Ile29713Val | |
| XM_017004820.1:c.84535A>G (TTN) | XP_016860309.1:p.Ile28179Val | |
| XM_017004821.1:c.84532A>G (TTN) | XP_016860310.1:p.Ile28178Val | |
| XM_017004822.1:c.81574A>G (TTN) | XP_016860311.1:p.Ile27192Val | |
| XM_017004823.1:c.63190A>G (TTN) | XP_016860312.1:p.Ile21064Val | |
| XM_024453094.1:c.84685A>G (TTN) | XP_024308862.1:p.Ile28229Val | |
| XM_024453095.1:c.84682A>G (TTN) | XP_024308863.1:p.Ile28228Val | |
| XM_024453096.1:c.84115A>G (TTN) | XP_024308864.1:p.Ile28039Val | |
| XM_024453097.1:c.81457A>G (TTN) | XP_024308865.1:p.Ile27153Val | |
| XM_024453098.1:c.81376A>G (TTN) | XP_024308866.1:p.Ile27126Val | |
| XM_024453099.1:c.63139A>G (TTN) | XP_024308867.1:p.Ile21047Val | |
| XM_024453100.1:c.52993A>G (TTN) | XP_024308868.1:p.Ile17665Val |