Linked Data
ClinVar Variation Id:
195636
ClinVar RCV Id:
RCV000222990
RCV000643008
RCV000724717
RCV001134131
RCV001134132
RCV001134128
RCV001134130
RCV001134129
RCV002426845
dbSNP Id:
rs200944827
ExAC:
2:179478952 C / T
gnomAD v2:
2-179478952-C-T
gnomAD v3:
2-178614225-C-T
gnomAD v4:
2-178614225-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614225C>T , CM000664.2:g.178614225C>T | GRCh38 |
| NC_000002.11:g.179478952C>T , CM000664.1:g.179478952C>T | GRCh37 |
| NC_000002.10:g.179187197C>T | NCBI36 |
| NG_011618.3:g.221578G>A , LRG_391:g.221578G>A | |
| NG_051363.1:g.96399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41468G>A (TTN) | ENSP00000343764.6:p.Arg13823Gln | |
| ENST00000342175.11:c.22553G>A (TTN) | ENSP00000340554.6:p.Arg7518Gln | |
| ENST00000359218.10:c.22352G>A (TTN) | ENSP00000352154.5:p.Arg7451Gln | |
| ENST00000342175.10:c.22553G>A (TTN) | ENSP00000340554.6:p.Arg7518Gln | |
| ENST00000342992.10:c.41468G>A (TTN) | ENSP00000343764.6:p.Arg13823Gln | |
| ENST00000359218.9:c.22352G>A (TTN) | ENSP00000352154.5:p.Arg7451Gln | |
| ENST00000460472.6:c.21977G>A (TTN) | ENSP00000434586.1:p.Arg7326Gln | |
| ENST00000589042.5:c.49172G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg16391Gln | |
| ENST00000591111.5:c.44249G>A (TTN) | ENSP00000465570.1:p.Arg14750Gln | |
| ENST00000615779.4:c.44249G>A (TTN) | ENSP00000483597.1:p.Arg14750Gln | |
| NM_001256850.1:c.44249G>A (TTN) | NP_001243779.1:p.Arg14750Gln | |
| NM_001267550.2:c.49172G>A (TTN) MANE Select | NP_001254479.2:p.Arg16391Gln | |
| NM_003319.4:c.21977G>A (TTN) | NP_003310.4:p.Arg7326Gln | |
| NM_133378.4:c.41468G>A (TTN) | NP_596869.4:p.Arg13823Gln | |
| NM_133432.3:c.22352G>A (TTN) | NP_597676.3:p.Arg7451Gln | |
| NM_133437.4:c.22553G>A (TTN) | NP_597681.4:p.Arg7518Gln | |
| NR_038271.1:n.973C>T (TTN-AS1) | ||
| XM_011511729.1:c.48269G>A (TTN) | XP_011510031.1:p.Arg16090Gln | |
| XM_011511730.1:c.22163G>A (TTN) | XP_011510032.1:p.Arg7388Gln | |
| XM_011511731.1:c.22022G>A (TTN) | XP_011510033.1:p.Arg7341Gln | |
| XM_017004819.1:c.48065G>A (TTN) | XP_016860308.1:p.Arg16022Gln | |
| XM_017004820.1:c.43463G>A (TTN) | XP_016860309.1:p.Arg14488Gln | |
| XM_017004821.1:c.43460G>A (TTN) | XP_016860310.1:p.Arg14487Gln | |
| XM_017004822.1:c.40502G>A (TTN) | XP_016860311.1:p.Arg13501Gln | |
| XM_017004823.1:c.22118G>A (TTN) | XP_016860312.1:p.Arg7373Gln | |
| XM_024453094.1:c.43613G>A (TTN) | XP_024308862.1:p.Arg14538Gln | |
| XM_024453095.1:c.43610G>A (TTN) | XP_024308863.1:p.Arg14537Gln | |
| XM_024453096.1:c.43043G>A (TTN) | XP_024308864.1:p.Arg14348Gln | |
| XM_024453097.1:c.40385G>A (TTN) | XP_024308865.1:p.Arg13462Gln | |
| XM_024453098.1:c.40304G>A (TTN) | XP_024308866.1:p.Arg13435Gln | |
| XM_024453099.1:c.22067G>A (TTN) | XP_024308867.1:p.Arg7356Gln | |
| XM_024453100.1:c.11921G>A (TTN) | XP_024308868.1:p.Arg3974Gln |