Linked Data
ClinVar Variation Id:
535028
ClinVar RCV Id:
RCV000642785
RCV001131286
RCV001131285
RCV001131287
RCV001131283
RCV001131284
RCV001805774
RCV002424456
dbSNP Id:
rs368527534
ExAC:
2:179479391 C / T
gnomAD v2:
2-179479391-C-T
gnomAD v3:
2-178614664-C-T
gnomAD v4:
2-178614664-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178614664C>T , CM000664.2:g.178614664C>T | GRCh38 |
| NC_000002.11:g.179479391C>T , CM000664.1:g.179479391C>T | GRCh37 |
| NC_000002.10:g.179187636C>T | NCBI36 |
| NG_011618.3:g.221139G>A , LRG_391:g.221139G>A | |
| NG_051363.1:g.96838C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41146G>A (TTN) | ENSP00000343764.6:p.Gly13716Arg | |
| ENST00000342175.11:c.22231G>A (TTN) | ENSP00000340554.6:p.Gly7411Arg | |
| ENST00000359218.10:c.22030G>A (TTN) | ENSP00000352154.5:p.Gly7344Arg | |
| ENST00000342175.10:c.22231G>A (TTN) | ENSP00000340554.6:p.Gly7411Arg | |
| ENST00000342992.10:c.41146G>A (TTN) | ENSP00000343764.6:p.Gly13716Arg | |
| ENST00000359218.9:c.22030G>A (TTN) | ENSP00000352154.5:p.Gly7344Arg | |
| ENST00000460472.6:c.21655G>A (TTN) | ENSP00000434586.1:p.Gly7219Arg | |
| ENST00000589042.5:c.48850G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly16284Arg | |
| ENST00000591111.5:c.43927G>A (TTN) | ENSP00000465570.1:p.Gly14643Arg | |
| ENST00000615779.4:c.43927G>A (TTN) | ENSP00000483597.1:p.Gly14643Arg | |
| NM_001256850.1:c.43927G>A (TTN) | NP_001243779.1:p.Gly14643Arg | |
| NM_001267550.2:c.48850G>A (TTN) MANE Select | NP_001254479.2:p.Gly16284Arg | |
| NM_003319.4:c.21655G>A (TTN) | NP_003310.4:p.Gly7219Arg | |
| NM_133378.4:c.41146G>A (TTN) | NP_596869.4:p.Gly13716Arg | |
| NM_133432.3:c.22030G>A (TTN) | NP_597676.3:p.Gly7344Arg | |
| NM_133437.4:c.22231G>A (TTN) | NP_597681.4:p.Gly7411Arg | |
| NR_038271.1:n.1412C>T (TTN-AS1) | ||
| XM_011511729.1:c.47947G>A (TTN) | XP_011510031.1:p.Gly15983Arg | |
| XM_011511730.1:c.21841G>A (TTN) | XP_011510032.1:p.Gly7281Arg | |
| XM_011511731.1:c.21700G>A (TTN) | XP_011510033.1:p.Gly7234Arg | |
| XM_017004819.1:c.47743G>A (TTN) | XP_016860308.1:p.Gly15915Arg | |
| XM_017004820.1:c.43141G>A (TTN) | XP_016860309.1:p.Gly14381Arg | |
| XM_017004821.1:c.43138G>A (TTN) | XP_016860310.1:p.Gly14380Arg | |
| XM_017004822.1:c.40180G>A (TTN) | XP_016860311.1:p.Gly13394Arg | |
| XM_017004823.1:c.21796G>A (TTN) | XP_016860312.1:p.Gly7266Arg | |
| XM_024453094.1:c.43291G>A (TTN) | XP_024308862.1:p.Gly14431Arg | |
| XM_024453095.1:c.43288G>A (TTN) | XP_024308863.1:p.Gly14430Arg | |
| XM_024453096.1:c.42721G>A (TTN) | XP_024308864.1:p.Gly14241Arg | |
| XM_024453097.1:c.40063G>A (TTN) | XP_024308865.1:p.Gly13355Arg | |
| XM_024453098.1:c.39982G>A (TTN) | XP_024308866.1:p.Gly13328Arg | |
| XM_024453099.1:c.21745G>A (TTN) | XP_024308867.1:p.Gly7249Arg | |
| XM_024453100.1:c.11599G>A (TTN) | XP_024308868.1:p.Gly3867Arg |