Linked Data
ClinVar Variation Id:
47222
ClinVar RCV Id:
RCV000040492
RCV000172648
RCV000285866
RCV000289204
RCV000341054
RCV000325515
RCV000383806
RCV000617230
RCV001084400
RCV001170804
RCV004534919
dbSNP Id:
rs56130023
ExAC:
2:179448450 G / A
gnomAD v2:
2-179448450-G-A
gnomAD v3:
2-178583723-G-A
gnomAD v4:
2-178583723-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583723G>A , CM000664.2:g.178583723G>A | GRCh38 |
| NC_000002.11:g.179448450G>A , CM000664.1:g.179448450G>A | GRCh37 |
| NC_000002.10:g.179156696G>A | NCBI36 |
| NG_011618.3:g.252080C>T , LRG_391:g.252080C>T | |
| NG_051363.1:g.65897G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57755C>T (TTN) | ENSP00000343764.6:p.Thr19252Ile | |
| ENST00000342175.11:c.38840C>T (TTN) | ENSP00000340554.6:p.Thr12947Ile | |
| ENST00000359218.10:c.38639C>T (TTN) | ENSP00000352154.5:p.Thr12880Ile | |
| ENST00000342175.10:c.38840C>T (TTN) | ENSP00000340554.6:p.Thr12947Ile | |
| ENST00000342992.10:c.57755C>T (TTN) | ENSP00000343764.6:p.Thr19252Ile | |
| ENST00000359218.9:c.38639C>T (TTN) | ENSP00000352154.5:p.Thr12880Ile | |
| ENST00000460472.6:c.38264C>T (TTN) | ENSP00000434586.1:p.Thr12755Ile | |
| ENST00000589042.5:c.65459C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr21820Ile | |
| ENST00000591111.5:c.60536C>T (TTN) | ENSP00000465570.1:p.Thr20179Ile | |
| ENST00000615779.4:c.60536C>T (TTN) | ENSP00000483597.1:p.Thr20179Ile | |
| NM_001256850.1:c.60536C>T (TTN) | NP_001243779.1:p.Thr20179Ile | |
| NM_001267550.2:c.65459C>T (TTN) MANE Select | NP_001254479.2:p.Thr21820Ile | |
| NM_003319.4:c.38264C>T (TTN) | NP_003310.4:p.Thr12755Ile | |
| NM_133378.4:c.57755C>T (TTN) | NP_596869.4:p.Thr19252Ile | |
| NM_133432.3:c.38639C>T (TTN) | NP_597676.3:p.Thr12880Ile | |
| NM_133437.4:c.38840C>T (TTN) | NP_597681.4:p.Thr12947Ile | |
| NR_038271.1:n.596+12274G>A (TTN-AS1) | ||
| NR_038272.1:n.2569G>A (TTN-AS1) | ||
| XM_011511729.1:c.64556C>T (TTN) | XP_011510031.1:p.Thr21519Ile | |
| XM_011511730.1:c.38450C>T (TTN) | XP_011510032.1:p.Thr12817Ile | |
| XM_011511731.1:c.38309C>T (TTN) | XP_011510033.1:p.Thr12770Ile | |
| XM_017004819.1:c.64352C>T (TTN) | XP_016860308.1:p.Thr21451Ile | |
| XM_017004820.1:c.59750C>T (TTN) | XP_016860309.1:p.Thr19917Ile | |
| XM_017004821.1:c.59747C>T (TTN) | XP_016860310.1:p.Thr19916Ile | |
| XM_017004822.1:c.56789C>T (TTN) | XP_016860311.1:p.Thr18930Ile | |
| XM_017004823.1:c.38405C>T (TTN) | XP_016860312.1:p.Thr12802Ile | |
| XM_024453094.1:c.59900C>T (TTN) | XP_024308862.1:p.Thr19967Ile | |
| XM_024453095.1:c.59897C>T (TTN) | XP_024308863.1:p.Thr19966Ile | |
| XM_024453096.1:c.59330C>T (TTN) | XP_024308864.1:p.Thr19777Ile | |
| XM_024453097.1:c.56672C>T (TTN) | XP_024308865.1:p.Thr18891Ile | |
| XM_024453098.1:c.56591C>T (TTN) | XP_024308866.1:p.Thr18864Ile | |
| XM_024453099.1:c.38354C>T (TTN) | XP_024308867.1:p.Thr12785Ile | |
| XM_024453100.1:c.28208C>T (TTN) | XP_024308868.1:p.Thr9403Ile |