Linked Data
ClinVar Variation Id:
202731
ClinVar RCV Id:
RCV000313228
RCV000352827
RCV000356258
RCV000396308
RCV000228391
RCV000398470
RCV000714055
RCV000764322
RCV001170369
RCV003235108
RCV002444755
dbSNP Id:
rs201541213
ExAC:
2:179460425 T / A
gnomAD v2:
2-179460425-T-A
gnomAD v3:
2-178595698-T-A
gnomAD v4:
2-178595698-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178595698T>A , CM000664.2:g.178595698T>A | GRCh38 |
| NC_000002.11:g.179460425T>A , CM000664.1:g.179460425T>A | GRCh37 |
| NC_000002.10:g.179168671T>A | NCBI36 |
| NG_011618.3:g.240105A>T , LRG_391:g.240105A>T | |
| NG_051363.1:g.77872T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49952A>T (TTN) | ENSP00000343764.6:p.Tyr16651Phe | |
| ENST00000342175.11:c.31037A>T (TTN) | ENSP00000340554.6:p.Tyr10346Phe | |
| ENST00000359218.10:c.30836A>T (TTN) | ENSP00000352154.5:p.Tyr10279Phe | |
| ENST00000342175.10:c.31037A>T (TTN) | ENSP00000340554.6:p.Tyr10346Phe | |
| ENST00000342992.10:c.49952A>T (TTN) | ENSP00000343764.6:p.Tyr16651Phe | |
| ENST00000359218.9:c.30836A>T (TTN) | ENSP00000352154.5:p.Tyr10279Phe | |
| ENST00000460472.6:c.30461A>T (TTN) | ENSP00000434586.1:p.Tyr10154Phe | |
| ENST00000589042.5:c.57656A>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr19219Phe | |
| ENST00000591111.5:c.52733A>T (TTN) | ENSP00000465570.1:p.Tyr17578Phe | |
| ENST00000615779.4:c.52733A>T (TTN) | ENSP00000483597.1:p.Tyr17578Phe | |
| NM_001256850.1:c.52733A>T (TTN) | NP_001243779.1:p.Tyr17578Phe | |
| NM_001267550.2:c.57656A>T (TTN) MANE Select | NP_001254479.2:p.Tyr19219Phe | |
| NM_003319.4:c.30461A>T (TTN) | NP_003310.4:p.Tyr10154Phe | |
| NM_133378.4:c.49952A>T (TTN) | NP_596869.4:p.Tyr16651Phe | |
| NM_133432.3:c.30836A>T (TTN) | NP_597676.3:p.Tyr10279Phe | |
| NM_133437.4:c.31037A>T (TTN) | NP_597681.4:p.Tyr10346Phe | |
| NR_038271.1:n.597-1898T>A (TTN-AS1) | ||
| NR_038272.1:n.3365-1898T>A (TTN-AS1) | ||
| XM_011511729.1:c.56753A>T (TTN) | XP_011510031.1:p.Tyr18918Phe | |
| XM_011511730.1:c.30647A>T (TTN) | XP_011510032.1:p.Tyr10216Phe | |
| XM_011511731.1:c.30506A>T (TTN) | XP_011510033.1:p.Tyr10169Phe | |
| XM_017004819.1:c.56549A>T (TTN) | XP_016860308.1:p.Tyr18850Phe | |
| XM_017004820.1:c.51947A>T (TTN) | XP_016860309.1:p.Tyr17316Phe | |
| XM_017004821.1:c.51944A>T (TTN) | XP_016860310.1:p.Tyr17315Phe | |
| XM_017004822.1:c.48986A>T (TTN) | XP_016860311.1:p.Tyr16329Phe | |
| XM_017004823.1:c.30602A>T (TTN) | XP_016860312.1:p.Tyr10201Phe | |
| XM_024453094.1:c.52097A>T (TTN) | XP_024308862.1:p.Tyr17366Phe | |
| XM_024453095.1:c.52094A>T (TTN) | XP_024308863.1:p.Tyr17365Phe | |
| XM_024453096.1:c.51527A>T (TTN) | XP_024308864.1:p.Tyr17176Phe | |
| XM_024453097.1:c.48869A>T (TTN) | XP_024308865.1:p.Tyr16290Phe | |
| XM_024453098.1:c.48788A>T (TTN) | XP_024308866.1:p.Tyr16263Phe | |
| XM_024453099.1:c.30551A>T (TTN) | XP_024308867.1:p.Tyr10184Phe | |
| XM_024453100.1:c.20405A>T (TTN) | XP_024308868.1:p.Tyr6802Phe |