Linked Data
ClinVar Variation Id:
96296
ClinVar RCV Id:
RCV000154930
RCV000272166
RCV000381758
RCV000329528
RCV000468946
RCV000289674
RCV000342201
RCV000619243
RCV000852823
RCV001798281
RCV001811388
dbSNP Id:
rs181717727
ExAC:
2:179449606 C / T
gnomAD v2:
2-179449606-C-T
gnomAD v3:
2-178584879-C-T
gnomAD v4:
2-178584879-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584879C>T , CM000664.2:g.178584879C>T | GRCh38 |
| NC_000002.11:g.179449606C>T , CM000664.1:g.179449606C>T | GRCh37 |
| NC_000002.10:g.179157852C>T | NCBI36 |
| NG_011618.3:g.250924G>A , LRG_391:g.250924G>A | |
| NG_051363.1:g.67053C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57058G>A (TTN) | ENSP00000343764.6:p.Gly19020Arg | |
| ENST00000342175.11:c.38143G>A (TTN) | ENSP00000340554.6:p.Gly12715Arg | |
| ENST00000359218.10:c.37942G>A (TTN) | ENSP00000352154.5:p.Gly12648Arg | |
| ENST00000342175.10:c.38143G>A (TTN) | ENSP00000340554.6:p.Gly12715Arg | |
| ENST00000342992.10:c.57058G>A (TTN) | ENSP00000343764.6:p.Gly19020Arg | |
| ENST00000359218.9:c.37942G>A (TTN) | ENSP00000352154.5:p.Gly12648Arg | |
| ENST00000460472.6:c.37567G>A (TTN) | ENSP00000434586.1:p.Gly12523Arg | |
| ENST00000589042.5:c.64762G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly21588Arg | |
| ENST00000591111.5:c.59839G>A (TTN) | ENSP00000465570.1:p.Gly19947Arg | |
| ENST00000615779.4:c.59839G>A (TTN) | ENSP00000483597.1:p.Gly19947Arg | |
| NM_001256850.1:c.59839G>A (TTN) | NP_001243779.1:p.Gly19947Arg | |
| NM_001267550.2:c.64762G>A (TTN) MANE Select | NP_001254479.2:p.Gly21588Arg | |
| NM_003319.4:c.37567G>A (TTN) | NP_003310.4:p.Gly12523Arg | |
| NM_133378.4:c.57058G>A (TTN) | NP_596869.4:p.Gly19020Arg | |
| NM_133432.3:c.37942G>A (TTN) | NP_597676.3:p.Gly12648Arg | |
| NM_133437.4:c.38143G>A (TTN) | NP_597681.4:p.Gly12715Arg | |
| NR_038271.1:n.597-12717C>T (TTN-AS1) | ||
| NR_038272.1:n.3074C>T (TTN-AS1) | ||
| XM_011511729.1:c.63859G>A (TTN) | XP_011510031.1:p.Gly21287Arg | |
| XM_011511730.1:c.37753G>A (TTN) | XP_011510032.1:p.Gly12585Arg | |
| XM_011511731.1:c.37612G>A (TTN) | XP_011510033.1:p.Gly12538Arg | |
| XM_017004819.1:c.63655G>A (TTN) | XP_016860308.1:p.Gly21219Arg | |
| XM_017004820.1:c.59053G>A (TTN) | XP_016860309.1:p.Gly19685Arg | |
| XM_017004821.1:c.59050G>A (TTN) | XP_016860310.1:p.Gly19684Arg | |
| XM_017004822.1:c.56092G>A (TTN) | XP_016860311.1:p.Gly18698Arg | |
| XM_017004823.1:c.37708G>A (TTN) | XP_016860312.1:p.Gly12570Arg | |
| XM_024453094.1:c.59203G>A (TTN) | XP_024308862.1:p.Gly19735Arg | |
| XM_024453095.1:c.59200G>A (TTN) | XP_024308863.1:p.Gly19734Arg | |
| XM_024453096.1:c.58633G>A (TTN) | XP_024308864.1:p.Gly19545Arg | |
| XM_024453097.1:c.55975G>A (TTN) | XP_024308865.1:p.Gly18659Arg | |
| XM_024453098.1:c.55894G>A (TTN) | XP_024308866.1:p.Gly18632Arg | |
| XM_024453099.1:c.37657G>A (TTN) | XP_024308867.1:p.Gly12553Arg | |
| XM_024453100.1:c.27511G>A (TTN) | XP_024308868.1:p.Gly9171Arg |