Linked Data
ClinVar Variation Id:
47456
ClinVar RCV Id:
RCV000040725
RCV000172219
RCV000291684
RCV000307010
RCV000346476
RCV000402859
RCV000393775
RCV001081280
RCV001170545
RCV002354210
dbSNP Id:
rs201290358
ExAC:
2:179424176 C / T
gnomAD v2:
2-179424176-C-T
gnomAD v3:
2-178559449-C-T
gnomAD v4:
2-178559449-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559449C>T , CM000664.2:g.178559449C>T | GRCh38 |
| NC_000002.11:g.179424176C>T , CM000664.1:g.179424176C>T | GRCh37 |
| NC_000002.10:g.179132422C>T | NCBI36 |
| NG_011618.3:g.276354G>A , LRG_391:g.276354G>A | |
| NG_051363.1:g.41623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78979G>A (TTN) | ENSP00000343764.6:p.Val26327Met | |
| ENST00000342175.11:c.60064G>A (TTN) | ENSP00000340554.6:p.Val20022Met | |
| ENST00000359218.10:c.59863G>A (TTN) | ENSP00000352154.5:p.Val19955Met | |
| ENST00000342175.10:c.60064G>A (TTN) | ENSP00000340554.6:p.Val20022Met | |
| ENST00000342992.10:c.78979G>A (TTN) | ENSP00000343764.6:p.Val26327Met | |
| ENST00000359218.9:c.59863G>A (TTN) | ENSP00000352154.5:p.Val19955Met | |
| ENST00000460472.6:c.59488G>A (TTN) | ENSP00000434586.1:p.Val19830Met | |
| ENST00000589042.5:c.86683G>A (TTN) MANE Select | ENSP00000467141.1:p.Val28895Met | |
| ENST00000591111.5:c.81760G>A (TTN) | ENSP00000465570.1:p.Val27254Met | |
| ENST00000615779.4:c.81760G>A (TTN) | ENSP00000483597.1:p.Val27254Met | |
| NM_001256850.1:c.81760G>A (TTN) | NP_001243779.1:p.Val27254Met | |
| NM_001267550.2:c.86683G>A (TTN) MANE Select | NP_001254479.2:p.Val28895Met | |
| NM_003319.4:c.59488G>A (TTN) | NP_003310.4:p.Val19830Met | |
| NM_133378.4:c.78979G>A (TTN) | NP_596869.4:p.Val26327Met | |
| NM_133432.3:c.59863G>A (TTN) | NP_597676.3:p.Val19955Met | |
| NM_133437.4:c.60064G>A (TTN) | NP_597681.4:p.Val20022Met | |
| NR_038271.1:n.447-11851C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+17088C>T (TTN-AS1) | ||
| XM_011511729.1:c.85780G>A (TTN) | XP_011510031.1:p.Val28594Met | |
| XM_011511730.1:c.59674G>A (TTN) | XP_011510032.1:p.Val19892Met | |
| XM_011511731.1:c.59533G>A (TTN) | XP_011510033.1:p.Val19845Met | |
| XM_017004819.1:c.85576G>A (TTN) | XP_016860308.1:p.Val28526Met | |
| XM_017004820.1:c.80974G>A (TTN) | XP_016860309.1:p.Val26992Met | |
| XM_017004821.1:c.80971G>A (TTN) | XP_016860310.1:p.Val26991Met | |
| XM_017004822.1:c.78013G>A (TTN) | XP_016860311.1:p.Val26005Met | |
| XM_017004823.1:c.59629G>A (TTN) | XP_016860312.1:p.Val19877Met | |
| XM_024453094.1:c.81124G>A (TTN) | XP_024308862.1:p.Val27042Met | |
| XM_024453095.1:c.81121G>A (TTN) | XP_024308863.1:p.Val27041Met | |
| XM_024453096.1:c.80554G>A (TTN) | XP_024308864.1:p.Val26852Met | |
| XM_024453097.1:c.77896G>A (TTN) | XP_024308865.1:p.Val25966Met | |
| XM_024453098.1:c.77815G>A (TTN) | XP_024308866.1:p.Val25939Met | |
| XM_024453099.1:c.59578G>A (TTN) | XP_024308867.1:p.Val19860Met | |
| XM_024453100.1:c.49432G>A (TTN) | XP_024308868.1:p.Val16478Met |