Linked Data
ClinVar Variation Id:
130680
ClinVar RCV Id:
RCV000118781
RCV000154916
RCV000280942
RCV000260854
RCV000375446
RCV000316126
RCV000385773
RCV001081879
RCV002336260
dbSNP Id:
rs56341835
ExAC:
2:179433143 C / T
gnomAD v2:
2-179433143-C-T
gnomAD v3:
2-178568416-C-T
gnomAD v4:
2-178568416-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178568416C>T , CM000664.2:g.178568416C>T | GRCh38 |
| NC_000002.11:g.179433143C>T , CM000664.1:g.179433143C>T | GRCh37 |
| NC_000002.10:g.179141389C>T | NCBI36 |
| NG_011618.3:g.267387G>A , LRG_391:g.267387G>A | |
| NG_051363.1:g.50590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70012G>A (TTN) | ENSP00000343764.6:p.Glu23338Lys | |
| ENST00000342175.11:c.51097G>A (TTN) | ENSP00000340554.6:p.Glu17033Lys | |
| ENST00000359218.10:c.50896G>A (TTN) | ENSP00000352154.5:p.Glu16966Lys | |
| ENST00000342175.10:c.51097G>A (TTN) | ENSP00000340554.6:p.Glu17033Lys | |
| ENST00000342992.10:c.70012G>A (TTN) | ENSP00000343764.6:p.Glu23338Lys | |
| ENST00000359218.9:c.50896G>A (TTN) | ENSP00000352154.5:p.Glu16966Lys | |
| ENST00000460472.6:c.50521G>A (TTN) | ENSP00000434586.1:p.Glu16841Lys | |
| ENST00000589042.5:c.77716G>A (TTN) MANE Select | ENSP00000467141.1:p.Glu25906Lys | |
| ENST00000591111.5:c.72793G>A (TTN) | ENSP00000465570.1:p.Glu24265Lys | |
| ENST00000615779.4:c.72793G>A (TTN) | ENSP00000483597.1:p.Glu24265Lys | |
| NM_001256850.1:c.72793G>A (TTN) | NP_001243779.1:p.Glu24265Lys | |
| NM_001267550.2:c.77716G>A (TTN) MANE Select | NP_001254479.2:p.Glu25906Lys | |
| NM_003319.4:c.50521G>A (TTN) | NP_003310.4:p.Glu16841Lys | |
| NM_133378.4:c.70012G>A (TTN) | NP_596869.4:p.Glu23338Lys | |
| NM_133432.3:c.50896G>A (TTN) | NP_597676.3:p.Glu16966Lys | |
| NM_133437.4:c.51097G>A (TTN) | NP_597681.4:p.Glu17033Lys | |
| NR_038271.1:n.447-2884C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-14156C>T (TTN-AS1) | ||
| XM_011511729.1:c.76813G>A (TTN) | XP_011510031.1:p.Glu25605Lys | |
| XM_011511730.1:c.50707G>A (TTN) | XP_011510032.1:p.Glu16903Lys | |
| XM_011511731.1:c.50566G>A (TTN) | XP_011510033.1:p.Glu16856Lys | |
| XM_017004819.1:c.76609G>A (TTN) | XP_016860308.1:p.Glu25537Lys | |
| XM_017004820.1:c.72007G>A (TTN) | XP_016860309.1:p.Glu24003Lys | |
| XM_017004821.1:c.72004G>A (TTN) | XP_016860310.1:p.Glu24002Lys | |
| XM_017004822.1:c.69046G>A (TTN) | XP_016860311.1:p.Glu23016Lys | |
| XM_017004823.1:c.50662G>A (TTN) | XP_016860312.1:p.Glu16888Lys | |
| XM_024453094.1:c.72157G>A (TTN) | XP_024308862.1:p.Glu24053Lys | |
| XM_024453095.1:c.72154G>A (TTN) | XP_024308863.1:p.Glu24052Lys | |
| XM_024453096.1:c.71587G>A (TTN) | XP_024308864.1:p.Glu23863Lys | |
| XM_024453097.1:c.68929G>A (TTN) | XP_024308865.1:p.Glu22977Lys | |
| XM_024453098.1:c.68848G>A (TTN) | XP_024308866.1:p.Glu22950Lys | |
| XM_024453099.1:c.50611G>A (TTN) | XP_024308867.1:p.Glu16871Lys | |
| XM_024453100.1:c.40465G>A (TTN) | XP_024308868.1:p.Glu13489Lys |