Linked Data
ClinVar Variation Id:
467623
dbSNP Id:
rs1489769852
gnomAD v2:
2-179417900-T-C
gnomAD v3:
2-178553173-T-C
gnomAD v4:
2-178553173-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553173T>C , CM000664.2:g.178553173T>C | GRCh38 |
| NC_000002.11:g.179417900T>C , CM000664.1:g.179417900T>C | GRCh37 |
| NC_000002.10:g.179126146T>C | NCBI36 |
| NG_011618.3:g.282630A>G , LRG_391:g.282630A>G | |
| NG_051363.1:g.35347T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82023A>G (TTN) | ENSP00000343764.6:p.Lys27341= | |
| ENST00000342175.11:c.63108A>G (TTN) | ENSP00000340554.6:p.Lys21036= | |
| ENST00000359218.10:c.62907A>G (TTN) | ENSP00000352154.5:p.Lys20969= | |
| ENST00000342175.10:c.63108A>G (TTN) | ENSP00000340554.6:p.Lys21036= | |
| ENST00000342992.10:c.82023A>G (TTN) | ENSP00000343764.6:p.Lys27341= | |
| ENST00000359218.9:c.62907A>G (TTN) | ENSP00000352154.5:p.Lys20969= | |
| ENST00000460472.6:c.62532A>G (TTN) | ENSP00000434586.1:p.Lys20844= | |
| ENST00000589042.5:c.89727A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys29909= | |
| ENST00000591111.5:c.84804A>G (TTN) | ENSP00000465570.1:p.Lys28268= | |
| ENST00000615779.4:c.84804A>G (TTN) | ENSP00000483597.1:p.Lys28268= | |
| NM_001256850.1:c.84804A>G (TTN) | NP_001243779.1:p.Lys28268= | |
| NM_001267550.2:c.89727A>G (TTN) MANE Select | NP_001254479.2:p.Lys29909= | |
| NM_003319.4:c.62532A>G (TTN) | NP_003310.4:p.Lys20844= | |
| NM_133378.4:c.82023A>G (TTN) | NP_596869.4:p.Lys27341= | |
| NM_133432.3:c.62907A>G (TTN) | NP_597676.3:p.Lys20969= | |
| NM_133437.4:c.63108A>G (TTN) | NP_597681.4:p.Lys21036= | |
| NR_038271.1:n.447-18127T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+10812T>C (TTN-AS1) | ||
| XM_011511729.1:c.88824A>G (TTN) | XP_011510031.1:p.Lys29608= | |
| XM_011511730.1:c.62718A>G (TTN) | XP_011510032.1:p.Lys20906= | |
| XM_011511731.1:c.62577A>G (TTN) | XP_011510033.1:p.Lys20859= | |
| XM_017004819.1:c.88620A>G (TTN) | XP_016860308.1:p.Lys29540= | |
| XM_017004820.1:c.84018A>G (TTN) | XP_016860309.1:p.Lys28006= | |
| XM_017004821.1:c.84015A>G (TTN) | XP_016860310.1:p.Lys28005= | |
| XM_017004822.1:c.81057A>G (TTN) | XP_016860311.1:p.Lys27019= | |
| XM_017004823.1:c.62673A>G (TTN) | XP_016860312.1:p.Lys20891= | |
| XM_024453094.1:c.84168A>G (TTN) | XP_024308862.1:p.Lys28056= | |
| XM_024453095.1:c.84165A>G (TTN) | XP_024308863.1:p.Lys28055= | |
| XM_024453096.1:c.83598A>G (TTN) | XP_024308864.1:p.Lys27866= | |
| XM_024453097.1:c.80940A>G (TTN) | XP_024308865.1:p.Lys26980= | |
| XM_024453098.1:c.80859A>G (TTN) | XP_024308866.1:p.Lys26953= | |
| XM_024453099.1:c.62622A>G (TTN) | XP_024308867.1:p.Lys20874= | |
| XM_024453100.1:c.52476A>G (TTN) | XP_024308868.1:p.Lys17492= |