Linked Data
ClinVar Variation Id:
202743
dbSNP Id:
rs755949982
ExAC:
2:179456974 A / C
gnomAD v2:
2-179456974-A-C
gnomAD v3:
2-178592247-A-C
gnomAD v4:
2-178592247-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592247A>C , CM000664.2:g.178592247A>C | GRCh38 |
| NC_000002.11:g.179456974A>C , CM000664.1:g.179456974A>C | GRCh37 |
| NC_000002.10:g.179165220A>C | NCBI36 |
| NG_011618.3:g.243556T>G , LRG_391:g.243556T>G | |
| NG_051363.1:g.74421A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51953T>G (TTN) | ENSP00000343764.6:p.Val17318Gly | |
| ENST00000342175.11:c.33038T>G (TTN) | ENSP00000340554.6:p.Val11013Gly | |
| ENST00000359218.10:c.32837T>G (TTN) | ENSP00000352154.5:p.Val10946Gly | |
| ENST00000342175.10:c.33038T>G (TTN) | ENSP00000340554.6:p.Val11013Gly | |
| ENST00000342992.10:c.51953T>G (TTN) | ENSP00000343764.6:p.Val17318Gly | |
| ENST00000359218.9:c.32837T>G (TTN) | ENSP00000352154.5:p.Val10946Gly | |
| ENST00000460472.6:c.32462T>G (TTN) | ENSP00000434586.1:p.Val10821Gly | |
| ENST00000589042.5:c.59657T>G (TTN) MANE Select | ENSP00000467141.1:p.Val19886Gly | |
| ENST00000591111.5:c.54734T>G (TTN) | ENSP00000465570.1:p.Val18245Gly | |
| ENST00000615779.4:c.54734T>G (TTN) | ENSP00000483597.1:p.Val18245Gly | |
| NM_001256850.1:c.54734T>G (TTN) | NP_001243779.1:p.Val18245Gly | |
| NM_001267550.2:c.59657T>G (TTN) MANE Select | NP_001254479.2:p.Val19886Gly | |
| NM_003319.4:c.32462T>G (TTN) | NP_003310.4:p.Val10821Gly | |
| NM_133378.4:c.51953T>G (TTN) | NP_596869.4:p.Val17318Gly | |
| NM_133432.3:c.32837T>G (TTN) | NP_597676.3:p.Val10946Gly | |
| NM_133437.4:c.33038T>G (TTN) | NP_597681.4:p.Val11013Gly | |
| NR_038271.1:n.597-5349A>C (TTN-AS1) | ||
| NR_038272.1:n.3364+933A>C (TTN-AS1) | ||
| XM_011511729.1:c.58754T>G (TTN) | XP_011510031.1:p.Val19585Gly | |
| XM_011511730.1:c.32648T>G (TTN) | XP_011510032.1:p.Val10883Gly | |
| XM_011511731.1:c.32507T>G (TTN) | XP_011510033.1:p.Val10836Gly | |
| XM_017004819.1:c.58550T>G (TTN) | XP_016860308.1:p.Val19517Gly | |
| XM_017004820.1:c.53948T>G (TTN) | XP_016860309.1:p.Val17983Gly | |
| XM_017004821.1:c.53945T>G (TTN) | XP_016860310.1:p.Val17982Gly | |
| XM_017004822.1:c.50987T>G (TTN) | XP_016860311.1:p.Val16996Gly | |
| XM_017004823.1:c.32603T>G (TTN) | XP_016860312.1:p.Val10868Gly | |
| XM_024453094.1:c.54098T>G (TTN) | XP_024308862.1:p.Val18033Gly | |
| XM_024453095.1:c.54095T>G (TTN) | XP_024308863.1:p.Val18032Gly | |
| XM_024453096.1:c.53528T>G (TTN) | XP_024308864.1:p.Val17843Gly | |
| XM_024453097.1:c.50870T>G (TTN) | XP_024308865.1:p.Val16957Gly | |
| XM_024453098.1:c.50789T>G (TTN) | XP_024308866.1:p.Val16930Gly | |
| XM_024453099.1:c.32552T>G (TTN) | XP_024308867.1:p.Val10851Gly | |
| XM_024453100.1:c.22406T>G (TTN) | XP_024308868.1:p.Val7469Gly |