Linked Data
ClinVar Variation Id:
47712
ClinVar RCV Id:
RCV000040981
RCV000231148
RCV000286567
RCV000253556
RCV000287599
RCV000347285
RCV000341504
RCV000395312
RCV000769842
RCV001529340
dbSNP Id:
rs55842557
ExAC:
2:179393691 G / A
gnomAD v2:
2-179393691-G-A
gnomAD v3:
2-178528964-G-A
gnomAD v4:
2-178528964-G-A
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178528964G>A , CM000664.2:g.178528964G>A | GRCh38 |
| NC_000002.11:g.179393691G>A , CM000664.1:g.179393691G>A | GRCh37 |
| NC_000002.10:g.179101937G>A | NCBI36 |
| NG_011618.3:g.306839C>T , LRG_391:g.306839C>T | |
| NG_051363.1:g.11138G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.99083C>T (TTN) | ENSP00000343764.6:p.Thr33028Ile | |
| ENST00000342175.11:c.80168C>T (TTN) | ENSP00000340554.6:p.Thr26723Ile | |
| ENST00000359218.10:c.79967C>T (TTN) | ENSP00000352154.5:p.Thr26656Ile | |
| ENST00000342175.10:c.80168C>T (TTN) | ENSP00000340554.6:p.Thr26723Ile | |
| ENST00000342992.10:c.99083C>T (TTN) | ENSP00000343764.6:p.Thr33028Ile | |
| ENST00000359218.9:c.79967C>T (TTN) | ENSP00000352154.5:p.Thr26656Ile | |
| ENST00000460472.6:c.79592C>T (TTN) | ENSP00000434586.1:p.Thr26531Ile | |
| ENST00000589042.5:c.106787C>T (TTN) MANE Select | ENSP00000467141.1:p.Thr35596Ile | |
| ENST00000591111.5:c.101864C>T (TTN) | ENSP00000465570.1:p.Thr33955Ile | |
| ENST00000615779.4:c.101864C>T (TTN) | ENSP00000483597.1:p.Thr33955Ile | |
| NM_001256850.1:c.101864C>T (TTN) | NP_001243779.1:p.Thr33955Ile | |
| NM_001267550.2:c.106787C>T (TTN) MANE Select | NP_001254479.2:p.Thr35596Ile | |
| NM_003319.4:c.79592C>T (TTN) | NP_003310.4:p.Thr26531Ile | |
| NM_133378.4:c.99083C>T (TTN) | NP_596869.4:p.Thr33028Ile | |
| NM_133432.3:c.79967C>T (TTN) | NP_597676.3:p.Thr26656Ile | |
| NM_133437.4:c.80168C>T (TTN) | NP_597681.4:p.Thr26723Ile | |
| NR_038271.1:n.446+5328G>A (TTN-AS1) | ||
| NR_038272.1:n.219+5328G>A (TTN-AS1) | ||
| XM_011511729.1:c.105884C>T (TTN) | XP_011510031.1:p.Thr35295Ile | |
| XM_011511730.1:c.79778C>T (TTN) | XP_011510032.1:p.Thr26593Ile | |
| XM_011511731.1:c.79637C>T (TTN) | XP_011510033.1:p.Thr26546Ile | |
| XM_017004819.1:c.105680C>T (TTN) | XP_016860308.1:p.Thr35227Ile | |
| XM_017004820.1:c.101078C>T (TTN) | XP_016860309.1:p.Thr33693Ile | |
| XM_017004821.1:c.101075C>T (TTN) | XP_016860310.1:p.Thr33692Ile | |
| XM_017004822.1:c.98117C>T (TTN) | XP_016860311.1:p.Thr32706Ile | |
| XM_017004823.1:c.79733C>T (TTN) | XP_016860312.1:p.Thr26578Ile | |
| XM_024453094.1:c.101228C>T (TTN) | XP_024308862.1:p.Thr33743Ile | |
| XM_024453095.1:c.101225C>T (TTN) | XP_024308863.1:p.Thr33742Ile | |
| XM_024453096.1:c.100658C>T (TTN) | XP_024308864.1:p.Thr33553Ile | |
| XM_024453097.1:c.98000C>T (TTN) | XP_024308865.1:p.Thr32667Ile | |
| XM_024453098.1:c.97919C>T (TTN) | XP_024308866.1:p.Thr32640Ile | |
| XM_024453099.1:c.79682C>T (TTN) | XP_024308867.1:p.Thr26561Ile | |
| XM_024453100.1:c.69536C>T (TTN) | XP_024308868.1:p.Thr23179Ile |