Linked Data
ClinVar Variation Id:
332750
dbSNP Id:
rs766611189
ExAC:
2:179426874 G / A
gnomAD v2:
2-179426874-G-A
gnomAD v3:
2-178562147-G-A
gnomAD v4:
2-178562147-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178562147G>A , CM000664.2:g.178562147G>A | GRCh38 |
| NC_000002.11:g.179426874G>A , CM000664.1:g.179426874G>A | GRCh37 |
| NC_000002.10:g.179135120G>A | NCBI36 |
| NG_011618.3:g.273656C>T , LRG_391:g.273656C>T | |
| NG_051363.1:g.44321G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.76281C>T (TTN) | ENSP00000343764.6:p.Asn25427= | |
| ENST00000342175.11:c.57366C>T (TTN) | ENSP00000340554.6:p.Asn19122= | |
| ENST00000359218.10:c.57165C>T (TTN) | ENSP00000352154.5:p.Asn19055= | |
| ENST00000342175.10:c.57366C>T (TTN) | ENSP00000340554.6:p.Asn19122= | |
| ENST00000342992.10:c.76281C>T (TTN) | ENSP00000343764.6:p.Asn25427= | |
| ENST00000359218.9:c.57165C>T (TTN) | ENSP00000352154.5:p.Asn19055= | |
| ENST00000460472.6:c.56790C>T (TTN) | ENSP00000434586.1:p.Asn18930= | |
| ENST00000589042.5:c.83985C>T (TTN) MANE Select | ENSP00000467141.1:p.Asn27995= | |
| ENST00000591111.5:c.79062C>T (TTN) | ENSP00000465570.1:p.Asn26354= | |
| ENST00000615779.4:c.79062C>T (TTN) | ENSP00000483597.1:p.Asn26354= | |
| NM_001256850.1:c.79062C>T (TTN) | NP_001243779.1:p.Asn26354= | |
| NM_001267550.2:c.83985C>T (TTN) MANE Select | NP_001254479.2:p.Asn27995= | |
| NM_003319.4:c.56790C>T (TTN) | NP_003310.4:p.Asn18930= | |
| NM_133378.4:c.76281C>T (TTN) | NP_596869.4:p.Asn25427= | |
| NM_133432.3:c.57165C>T (TTN) | NP_597676.3:p.Asn19055= | |
| NM_133437.4:c.57366C>T (TTN) | NP_597681.4:p.Asn19122= | |
| NR_038271.1:n.447-9153G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+19786G>A (TTN-AS1) | ||
| XM_011511729.1:c.83082C>T (TTN) | XP_011510031.1:p.Asn27694= | |
| XM_011511730.1:c.56976C>T (TTN) | XP_011510032.1:p.Asn18992= | |
| XM_011511731.1:c.56835C>T (TTN) | XP_011510033.1:p.Asn18945= | |
| XM_017004819.1:c.82878C>T (TTN) | XP_016860308.1:p.Asn27626= | |
| XM_017004820.1:c.78276C>T (TTN) | XP_016860309.1:p.Asn26092= | |
| XM_017004821.1:c.78273C>T (TTN) | XP_016860310.1:p.Asn26091= | |
| XM_017004822.1:c.75315C>T (TTN) | XP_016860311.1:p.Asn25105= | |
| XM_017004823.1:c.56931C>T (TTN) | XP_016860312.1:p.Asn18977= | |
| XM_024453094.1:c.78426C>T (TTN) | XP_024308862.1:p.Asn26142= | |
| XM_024453095.1:c.78423C>T (TTN) | XP_024308863.1:p.Asn26141= | |
| XM_024453096.1:c.77856C>T (TTN) | XP_024308864.1:p.Asn25952= | |
| XM_024453097.1:c.75198C>T (TTN) | XP_024308865.1:p.Asn25066= | |
| XM_024453098.1:c.75117C>T (TTN) | XP_024308866.1:p.Asn25039= | |
| XM_024453099.1:c.56880C>T (TTN) | XP_024308867.1:p.Asn18960= | |
| XM_024453100.1:c.46734C>T (TTN) | XP_024308868.1:p.Asn15578= |