Linked Data
ClinVar Variation Id:
499292
dbSNP Id:
rs1487392148
gnomAD v2:
2-179441332-A-G
gnomAD v3:
2-178576605-A-G
gnomAD v4:
2-178576605-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178576605A>G , CM000664.2:g.178576605A>G | GRCh38 |
| NC_000002.11:g.179441332A>G , CM000664.1:g.179441332A>G | GRCh37 |
| NC_000002.10:g.179149578A>G | NCBI36 |
| NG_011618.3:g.259198T>C , LRG_391:g.259198T>C | |
| NG_051363.1:g.58779A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61935T>C (TTN) | ENSP00000343764.6:p.Arg20645= | |
| ENST00000342175.11:c.43020T>C (TTN) | ENSP00000340554.6:p.Arg14340= | |
| ENST00000359218.10:c.42819T>C (TTN) | ENSP00000352154.5:p.Arg14273= | |
| ENST00000342175.10:c.43020T>C (TTN) | ENSP00000340554.6:p.Arg14340= | |
| ENST00000342992.10:c.61935T>C (TTN) | ENSP00000343764.6:p.Arg20645= | |
| ENST00000359218.9:c.42819T>C (TTN) | ENSP00000352154.5:p.Arg14273= | |
| ENST00000460472.6:c.42444T>C (TTN) | ENSP00000434586.1:p.Arg14148= | |
| ENST00000589042.5:c.69639T>C (TTN) MANE Select | ENSP00000467141.1:p.Arg23213= | |
| ENST00000591111.5:c.64716T>C (TTN) | ENSP00000465570.1:p.Arg21572= | |
| ENST00000615779.4:c.64716T>C (TTN) | ENSP00000483597.1:p.Arg21572= | |
| NM_001256850.1:c.64716T>C (TTN) | NP_001243779.1:p.Arg21572= | |
| NM_001267550.2:c.69639T>C (TTN) MANE Select | NP_001254479.2:p.Arg23213= | |
| NM_003319.4:c.42444T>C (TTN) | NP_003310.4:p.Arg14148= | |
| NM_133378.4:c.61935T>C (TTN) | NP_596869.4:p.Arg20645= | |
| NM_133432.3:c.42819T>C (TTN) | NP_597676.3:p.Arg14273= | |
| NM_133437.4:c.43020T>C (TTN) | NP_597681.4:p.Arg14340= | |
| NR_038271.1:n.596+5156A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-5967A>G (TTN-AS1) | ||
| XM_011511729.1:c.68736T>C (TTN) | XP_011510031.1:p.Arg22912= | |
| XM_011511730.1:c.42630T>C (TTN) | XP_011510032.1:p.Arg14210= | |
| XM_011511731.1:c.42489T>C (TTN) | XP_011510033.1:p.Arg14163= | |
| XM_017004819.1:c.68532T>C (TTN) | XP_016860308.1:p.Arg22844= | |
| XM_017004820.1:c.63930T>C (TTN) | XP_016860309.1:p.Arg21310= | |
| XM_017004821.1:c.63927T>C (TTN) | XP_016860310.1:p.Arg21309= | |
| XM_017004822.1:c.60969T>C (TTN) | XP_016860311.1:p.Arg20323= | |
| XM_017004823.1:c.42585T>C (TTN) | XP_016860312.1:p.Arg14195= | |
| XM_024453094.1:c.64080T>C (TTN) | XP_024308862.1:p.Arg21360= | |
| XM_024453095.1:c.64077T>C (TTN) | XP_024308863.1:p.Arg21359= | |
| XM_024453096.1:c.63510T>C (TTN) | XP_024308864.1:p.Arg21170= | |
| XM_024453097.1:c.60852T>C (TTN) | XP_024308865.1:p.Arg20284= | |
| XM_024453098.1:c.60771T>C (TTN) | XP_024308866.1:p.Arg20257= | |
| XM_024453099.1:c.42534T>C (TTN) | XP_024308867.1:p.Arg14178= | |
| XM_024453100.1:c.32388T>C (TTN) | XP_024308868.1:p.Arg10796= |