Linked Data
ClinVar Variation Id:
165915
ClinVar RCV Id:
RCV000152264
RCV000300379
RCV000339294
RCV000304060
RCV000392749
RCV000400185
RCV000869565
RCV001704099
RCV002336306
RCV003486675
dbSNP Id:
rs562680371
ExAC:
2:179454177 C / T
gnomAD v2:
2-179454177-C-T
gnomAD v3:
2-178589450-C-T
gnomAD v4:
2-178589450-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589450C>T , CM000664.2:g.178589450C>T | GRCh38 |
| NC_000002.11:g.179454177C>T , CM000664.1:g.179454177C>T | GRCh37 |
| NC_000002.10:g.179162423C>T | NCBI36 |
| NG_011618.3:g.246353G>A , LRG_391:g.246353G>A | |
| NG_051363.1:g.71624C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54571G>A (TTN) | ENSP00000343764.6:p.Glu18191Lys | |
| ENST00000342175.11:c.35656G>A (TTN) | ENSP00000340554.6:p.Glu11886Lys | |
| ENST00000359218.10:c.35455G>A (TTN) | ENSP00000352154.5:p.Glu11819Lys | |
| ENST00000342175.10:c.35656G>A (TTN) | ENSP00000340554.6:p.Glu11886Lys | |
| ENST00000342992.10:c.54571G>A (TTN) | ENSP00000343764.6:p.Glu18191Lys | |
| ENST00000359218.9:c.35455G>A (TTN) | ENSP00000352154.5:p.Glu11819Lys | |
| ENST00000460472.6:c.35080G>A (TTN) | ENSP00000434586.1:p.Glu11694Lys | |
| ENST00000589042.5:c.62275G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu20759Lys | |
| ENST00000591111.5:c.57352G>A (TTN) | ENSP00000465570.1:p.Glu19118Lys | |
| ENST00000615779.4:c.57352G>A (TTN) | ENSP00000483597.1:p.Glu19118Lys | |
| NM_001256850.1:c.57352G>A (TTN) | NP_001243779.1:p.Glu19118Lys | |
| NM_001267550.2:c.62275G>A (TTN) MANE Select | NP_001254479.2:p.Glu20759Lys | |
| NM_003319.4:c.35080G>A (TTN) | NP_003310.4:p.Glu11694Lys | |
| NM_133378.4:c.54571G>A (TTN) | NP_596869.4:p.Glu18191Lys | |
| NM_133432.3:c.35455G>A (TTN) | NP_597676.3:p.Glu11819Lys | |
| NM_133437.4:c.35656G>A (TTN) | NP_597681.4:p.Glu11886Lys | |
| NR_038271.1:n.597-8146C>T (TTN-AS1) | ||
| NR_038272.1:n.3189-1689C>T (TTN-AS1) | ||
| XM_011511729.1:c.61372G>A (TTN) | XP_011510031.1:p.Glu20458Lys | |
| XM_011511730.1:c.35266G>A (TTN) | XP_011510032.1:p.Glu11756Lys | |
| XM_011511731.1:c.35125G>A (TTN) | XP_011510033.1:p.Glu11709Lys | |
| XM_017004819.1:c.61168G>A (TTN) | XP_016860308.1:p.Glu20390Lys | |
| XM_017004820.1:c.56566G>A (TTN) | XP_016860309.1:p.Glu18856Lys | |
| XM_017004821.1:c.56563G>A (TTN) | XP_016860310.1:p.Glu18855Lys | |
| XM_017004822.1:c.53605G>A (TTN) | XP_016860311.1:p.Glu17869Lys | |
| XM_017004823.1:c.35221G>A (TTN) | XP_016860312.1:p.Glu11741Lys | |
| XM_024453094.1:c.56716G>A (TTN) | XP_024308862.1:p.Glu18906Lys | |
| XM_024453095.1:c.56713G>A (TTN) | XP_024308863.1:p.Glu18905Lys | |
| XM_024453096.1:c.56146G>A (TTN) | XP_024308864.1:p.Glu18716Lys | |
| XM_024453097.1:c.53488G>A (TTN) | XP_024308865.1:p.Glu17830Lys | |
| XM_024453098.1:c.53407G>A (TTN) | XP_024308866.1:p.Glu17803Lys | |
| XM_024453099.1:c.35170G>A (TTN) | XP_024308867.1:p.Glu11724Lys | |
| XM_024453100.1:c.25024G>A (TTN) | XP_024308868.1:p.Glu8342Lys |