Linked Data
ClinVar Variation Id:
501746
dbSNP Id:
rs972823319
gnomAD v3:
2-178592503-A-G
gnomAD v4:
2-178592503-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592503A>G , CM000664.2:g.178592503A>G | GRCh38 |
| NC_000002.11:g.179457230A>G , CM000664.1:g.179457230A>G | GRCh37 |
| NC_000002.10:g.179165476A>G | NCBI36 |
| NG_011618.3:g.243300T>C , LRG_391:g.243300T>C | |
| NG_051363.1:g.74677A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51798T>C (TTN) | ENSP00000343764.6:p.Asp17266= | |
| ENST00000342175.11:c.32883T>C (TTN) | ENSP00000340554.6:p.Asp10961= | |
| ENST00000359218.10:c.32682T>C (TTN) | ENSP00000352154.5:p.Asp10894= | |
| ENST00000342175.10:c.32883T>C (TTN) | ENSP00000340554.6:p.Asp10961= | |
| ENST00000342992.10:c.51798T>C (TTN) | ENSP00000343764.6:p.Asp17266= | |
| ENST00000359218.9:c.32682T>C (TTN) | ENSP00000352154.5:p.Asp10894= | |
| ENST00000460472.6:c.32307T>C (TTN) | ENSP00000434586.1:p.Asp10769= | |
| ENST00000589042.5:c.59502T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp19834= | |
| ENST00000591111.5:c.54579T>C (TTN) | ENSP00000465570.1:p.Asp18193= | |
| ENST00000615779.4:c.54579T>C (TTN) | ENSP00000483597.1:p.Asp18193= | |
| NM_001256850.1:c.54579T>C (TTN) | NP_001243779.1:p.Asp18193= | |
| NM_001267550.2:c.59502T>C (TTN) MANE Select | NP_001254479.2:p.Asp19834= | |
| NM_003319.4:c.32307T>C (TTN) | NP_003310.4:p.Asp10769= | |
| NM_133378.4:c.51798T>C (TTN) | NP_596869.4:p.Asp17266= | |
| NM_133432.3:c.32682T>C (TTN) | NP_597676.3:p.Asp10894= | |
| NM_133437.4:c.32883T>C (TTN) | NP_597681.4:p.Asp10961= | |
| NR_038271.1:n.597-5093A>G (TTN-AS1) | ||
| NR_038272.1:n.3364+1189A>G (TTN-AS1) | ||
| XM_011511729.1:c.58599T>C (TTN) | XP_011510031.1:p.Asp19533= | |
| XM_011511730.1:c.32493T>C (TTN) | XP_011510032.1:p.Asp10831= | |
| XM_011511731.1:c.32352T>C (TTN) | XP_011510033.1:p.Asp10784= | |
| XM_017004819.1:c.58395T>C (TTN) | XP_016860308.1:p.Asp19465= | |
| XM_017004820.1:c.53793T>C (TTN) | XP_016860309.1:p.Asp17931= | |
| XM_017004821.1:c.53790T>C (TTN) | XP_016860310.1:p.Asp17930= | |
| XM_017004822.1:c.50832T>C (TTN) | XP_016860311.1:p.Asp16944= | |
| XM_017004823.1:c.32448T>C (TTN) | XP_016860312.1:p.Asp10816= | |
| XM_024453094.1:c.53943T>C (TTN) | XP_024308862.1:p.Asp17981= | |
| XM_024453095.1:c.53940T>C (TTN) | XP_024308863.1:p.Asp17980= | |
| XM_024453096.1:c.53373T>C (TTN) | XP_024308864.1:p.Asp17791= | |
| XM_024453097.1:c.50715T>C (TTN) | XP_024308865.1:p.Asp16905= | |
| XM_024453098.1:c.50634T>C (TTN) | XP_024308866.1:p.Asp16878= | |
| XM_024453099.1:c.32397T>C (TTN) | XP_024308867.1:p.Asp10799= | |
| XM_024453100.1:c.22251T>C (TTN) | XP_024308868.1:p.Asp7417= |