Linked Data
ClinVar Variation Id:
238875
dbSNP Id:
rs142108986
ExAC:
2:179403378 T / G
gnomAD v2:
2-179403378-T-G
gnomAD v3:
2-178538651-T-G
gnomAD v4:
2-178538651-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178538651T>G , CM000664.2:g.178538651T>G | GRCh38 |
| NC_000002.11:g.179403378T>G , CM000664.1:g.179403378T>G | GRCh37 |
| NC_000002.10:g.179111624T>G | NCBI36 |
| NG_011618.3:g.297152A>C , LRG_391:g.297152A>C | |
| NG_051363.1:g.20825T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.91474A>C (TTN) | ENSP00000343764.6:p.Ile30492Leu | |
| ENST00000342175.11:c.72559A>C (TTN) | ENSP00000340554.6:p.Ile24187Leu | |
| ENST00000359218.10:c.72358A>C (TTN) | ENSP00000352154.5:p.Ile24120Leu | |
| ENST00000342175.10:c.72559A>C (TTN) | ENSP00000340554.6:p.Ile24187Leu | |
| ENST00000342992.10:c.91474A>C (TTN) | ENSP00000343764.6:p.Ile30492Leu | |
| ENST00000359218.9:c.72358A>C (TTN) | ENSP00000352154.5:p.Ile24120Leu | |
| ENST00000460472.6:c.71983A>C (TTN) | ENSP00000434586.1:p.Ile23995Leu | |
| ENST00000589042.5:c.99178A>C (TTN) MANE Select | ENSP00000467141.1:p.Ile33060Leu | |
| ENST00000591111.5:c.94255A>C (TTN) | ENSP00000465570.1:p.Ile31419Leu | |
| ENST00000615779.4:c.94255A>C (TTN) | ENSP00000483597.1:p.Ile31419Leu | |
| NM_001256850.1:c.94255A>C (TTN) | NP_001243779.1:p.Ile31419Leu | |
| NM_001267550.2:c.99178A>C (TTN) MANE Select | NP_001254479.2:p.Ile33060Leu | |
| NM_003319.4:c.71983A>C (TTN) | NP_003310.4:p.Ile23995Leu | |
| NM_133378.4:c.91474A>C (TTN) | NP_596869.4:p.Ile30492Leu | |
| NM_133432.3:c.72358A>C (TTN) | NP_597676.3:p.Ile24120Leu | |
| NM_133437.4:c.72559A>C (TTN) | NP_597681.4:p.Ile24187Leu | |
| NR_038271.1:n.446+15015T>G (TTN-AS1) | ||
| NR_038272.1:n.648-47T>G (TTN-AS1) | ||
| XM_011511729.1:c.98275A>C (TTN) | XP_011510031.1:p.Ile32759Leu | |
| XM_011511730.1:c.72169A>C (TTN) | XP_011510032.1:p.Ile24057Leu | |
| XM_011511731.1:c.72028A>C (TTN) | XP_011510033.1:p.Ile24010Leu | |
| XM_017004819.1:c.98071A>C (TTN) | XP_016860308.1:p.Ile32691Leu | |
| XM_017004820.1:c.93469A>C (TTN) | XP_016860309.1:p.Ile31157Leu | |
| XM_017004821.1:c.93466A>C (TTN) | XP_016860310.1:p.Ile31156Leu | |
| XM_017004822.1:c.90508A>C (TTN) | XP_016860311.1:p.Ile30170Leu | |
| XM_017004823.1:c.72124A>C (TTN) | XP_016860312.1:p.Ile24042Leu | |
| XM_024453094.1:c.93619A>C (TTN) | XP_024308862.1:p.Ile31207Leu | |
| XM_024453095.1:c.93616A>C (TTN) | XP_024308863.1:p.Ile31206Leu | |
| XM_024453096.1:c.93049A>C (TTN) | XP_024308864.1:p.Ile31017Leu | |
| XM_024453097.1:c.90391A>C (TTN) | XP_024308865.1:p.Ile30131Leu | |
| XM_024453098.1:c.90310A>C (TTN) | XP_024308866.1:p.Ile30104Leu | |
| XM_024453099.1:c.72073A>C (TTN) | XP_024308867.1:p.Ile24025Leu | |
| XM_024453100.1:c.61927A>C (TTN) | XP_024308868.1:p.Ile20643Leu |