Linked Data
ClinVar Variation Id:
178166
ClinVar RCV Id:
RCV000154887
RCV000172616
RCV000852786
RCV001131361
RCV001131360
RCV001083749
RCV001131357
RCV001131358
RCV001131359
RCV002362817
RCV004544420
dbSNP Id:
rs59148238
ExAC:
2:179410255 T / C
gnomAD v2:
2-179410255-T-C
gnomAD v3:
2-178545528-T-C
gnomAD v4:
2-178545528-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178545528T>C , CM000664.2:g.178545528T>C | GRCh38 |
| NC_000002.11:g.179410255T>C , CM000664.1:g.179410255T>C | GRCh37 |
| NC_000002.10:g.179118501T>C | NCBI36 |
| NG_011618.3:g.290275A>G , LRG_391:g.290275A>G | |
| NG_051363.1:g.27702T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87878A>G (TTN) | ENSP00000343764.6:p.Tyr29293Cys | |
| ENST00000342175.11:c.68963A>G (TTN) | ENSP00000340554.6:p.Tyr22988Cys | |
| ENST00000359218.10:c.68762A>G (TTN) | ENSP00000352154.5:p.Tyr22921Cys | |
| ENST00000342175.10:c.68963A>G (TTN) | ENSP00000340554.6:p.Tyr22988Cys | |
| ENST00000342992.10:c.87878A>G (TTN) | ENSP00000343764.6:p.Tyr29293Cys | |
| ENST00000359218.9:c.68762A>G (TTN) | ENSP00000352154.5:p.Tyr22921Cys | |
| ENST00000460472.6:c.68387A>G (TTN) | ENSP00000434586.1:p.Tyr22796Cys | |
| ENST00000589042.5:c.95582A>G (TTN) MANE Select | ENSP00000467141.1:p.Tyr31861Cys | |
| ENST00000591111.5:c.90659A>G (TTN) | ENSP00000465570.1:p.Tyr30220Cys | |
| ENST00000615779.4:c.90659A>G (TTN) | ENSP00000483597.1:p.Tyr30220Cys | |
| NM_001256850.1:c.90659A>G (TTN) | NP_001243779.1:p.Tyr30220Cys | |
| NM_001267550.2:c.95582A>G (TTN) MANE Select | NP_001254479.2:p.Tyr31861Cys | |
| NM_003319.4:c.68387A>G (TTN) | NP_003310.4:p.Tyr22796Cys | |
| NM_133378.4:c.87878A>G (TTN) | NP_596869.4:p.Tyr29293Cys | |
| NM_133432.3:c.68762A>G (TTN) | NP_597676.3:p.Tyr22921Cys | |
| NM_133437.4:c.68963A>G (TTN) | NP_597681.4:p.Tyr22988Cys | |
| NR_038271.1:n.446+21892T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+3167T>C (TTN-AS1) | ||
| XM_011511729.1:c.94679A>G (TTN) | XP_011510031.1:p.Tyr31560Cys | |
| XM_011511730.1:c.68573A>G (TTN) | XP_011510032.1:p.Tyr22858Cys | |
| XM_011511731.1:c.68432A>G (TTN) | XP_011510033.1:p.Tyr22811Cys | |
| XM_017004819.1:c.94475A>G (TTN) | XP_016860308.1:p.Tyr31492Cys | |
| XM_017004820.1:c.89873A>G (TTN) | XP_016860309.1:p.Tyr29958Cys | |
| XM_017004821.1:c.89870A>G (TTN) | XP_016860310.1:p.Tyr29957Cys | |
| XM_017004822.1:c.86912A>G (TTN) | XP_016860311.1:p.Tyr28971Cys | |
| XM_017004823.1:c.68528A>G (TTN) | XP_016860312.1:p.Tyr22843Cys | |
| XM_024453094.1:c.90023A>G (TTN) | XP_024308862.1:p.Tyr30008Cys | |
| XM_024453095.1:c.90020A>G (TTN) | XP_024308863.1:p.Tyr30007Cys | |
| XM_024453096.1:c.89453A>G (TTN) | XP_024308864.1:p.Tyr29818Cys | |
| XM_024453097.1:c.86795A>G (TTN) | XP_024308865.1:p.Tyr28932Cys | |
| XM_024453098.1:c.86714A>G (TTN) | XP_024308866.1:p.Tyr28905Cys | |
| XM_024453099.1:c.68477A>G (TTN) | XP_024308867.1:p.Tyr22826Cys | |
| XM_024453100.1:c.58331A>G (TTN) | XP_024308868.1:p.Tyr19444Cys |