Linked Data
ClinVar Variation Id:
202875
dbSNP Id:
rs370768049
ExAC:
2:179433907 A / G
gnomAD v2:
2-179433907-A-G
gnomAD v3:
2-178569180-A-G
gnomAD v4:
2-178569180-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569180A>G , CM000664.2:g.178569180A>G | GRCh38 |
| NC_000002.11:g.179433907A>G , CM000664.1:g.179433907A>G | GRCh37 |
| NC_000002.10:g.179142153A>G | NCBI36 |
| NG_011618.3:g.266623T>C , LRG_391:g.266623T>C | |
| NG_051363.1:g.51354A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69248T>C (TTN) | ENSP00000343764.6:p.Val23083Ala | |
| ENST00000342175.11:c.50333T>C (TTN) | ENSP00000340554.6:p.Val16778Ala | |
| ENST00000359218.10:c.50132T>C (TTN) | ENSP00000352154.5:p.Val16711Ala | |
| ENST00000342175.10:c.50333T>C (TTN) | ENSP00000340554.6:p.Val16778Ala | |
| ENST00000342992.10:c.69248T>C (TTN) | ENSP00000343764.6:p.Val23083Ala | |
| ENST00000359218.9:c.50132T>C (TTN) | ENSP00000352154.5:p.Val16711Ala | |
| ENST00000460472.6:c.49757T>C (TTN) | ENSP00000434586.1:p.Val16586Ala | |
| ENST00000589042.5:c.76952T>C (TTN) MANE Select | ENSP00000467141.1:p.Val25651Ala | |
| ENST00000591111.5:c.72029T>C (TTN) | ENSP00000465570.1:p.Val24010Ala | |
| ENST00000615779.4:c.72029T>C (TTN) | ENSP00000483597.1:p.Val24010Ala | |
| NM_001256850.1:c.72029T>C (TTN) | NP_001243779.1:p.Val24010Ala | |
| NM_001267550.2:c.76952T>C (TTN) MANE Select | NP_001254479.2:p.Val25651Ala | |
| NM_003319.4:c.49757T>C (TTN) | NP_003310.4:p.Val16586Ala | |
| NM_133378.4:c.69248T>C (TTN) | NP_596869.4:p.Val23083Ala | |
| NM_133432.3:c.50132T>C (TTN) | NP_597676.3:p.Val16711Ala | |
| NM_133437.4:c.50333T>C (TTN) | NP_597681.4:p.Val16778Ala | |
| NR_038271.1:n.447-2120A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-13392A>G (TTN-AS1) | ||
| XM_011511729.1:c.76049T>C (TTN) | XP_011510031.1:p.Val25350Ala | |
| XM_011511730.1:c.49943T>C (TTN) | XP_011510032.1:p.Val16648Ala | |
| XM_011511731.1:c.49802T>C (TTN) | XP_011510033.1:p.Val16601Ala | |
| XM_017004819.1:c.75845T>C (TTN) | XP_016860308.1:p.Val25282Ala | |
| XM_017004820.1:c.71243T>C (TTN) | XP_016860309.1:p.Val23748Ala | |
| XM_017004821.1:c.71240T>C (TTN) | XP_016860310.1:p.Val23747Ala | |
| XM_017004822.1:c.68282T>C (TTN) | XP_016860311.1:p.Val22761Ala | |
| XM_017004823.1:c.49898T>C (TTN) | XP_016860312.1:p.Val16633Ala | |
| XM_024453094.1:c.71393T>C (TTN) | XP_024308862.1:p.Val23798Ala | |
| XM_024453095.1:c.71390T>C (TTN) | XP_024308863.1:p.Val23797Ala | |
| XM_024453096.1:c.70823T>C (TTN) | XP_024308864.1:p.Val23608Ala | |
| XM_024453097.1:c.68165T>C (TTN) | XP_024308865.1:p.Val22722Ala | |
| XM_024453098.1:c.68084T>C (TTN) | XP_024308866.1:p.Val22695Ala | |
| XM_024453099.1:c.49847T>C (TTN) | XP_024308867.1:p.Val16616Ala | |
| XM_024453100.1:c.39701T>C (TTN) | XP_024308868.1:p.Val13234Ala |