Linked Data
ClinVar Variation Id:
1297569
ClinVar RCV Id:
RCV001723337
dbSNP Id:
rs786205328
gnomAD v4:
2-178549786-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549786T>G , CM000664.2:g.178549786T>G | GRCh38 |
| NC_000002.11:g.179414513T>G , CM000664.1:g.179414513T>G | GRCh37 |
| NC_000002.10:g.179122759T>G | NCBI36 |
| NG_011618.3:g.286017A>C , LRG_391:g.286017A>C | |
| NG_051363.1:g.31960T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84232A>C (TTN) | ENSP00000343764.6:p.Asn28078His | |
| ENST00000342175.11:c.65317A>C (TTN) | ENSP00000340554.6:p.Asn21773His | |
| ENST00000359218.10:c.65116A>C (TTN) | ENSP00000352154.5:p.Asn21706His | |
| ENST00000342175.10:c.65317A>C (TTN) | ENSP00000340554.6:p.Asn21773His | |
| ENST00000342992.10:c.84232A>C (TTN) | ENSP00000343764.6:p.Asn28078His | |
| ENST00000359218.9:c.65116A>C (TTN) | ENSP00000352154.5:p.Asn21706His | |
| ENST00000460472.6:c.64741A>C (TTN) | ENSP00000434586.1:p.Asn21581His | |
| ENST00000589042.5:c.91936A>C (TTN) MANE Select | ENSP00000467141.1:p.Asn30646His | |
| ENST00000591111.5:c.87013A>C (TTN) | ENSP00000465570.1:p.Asn29005His | |
| ENST00000615779.4:c.87013A>C (TTN) | ENSP00000483597.1:p.Asn29005His | |
| NM_001256850.1:c.87013A>C (TTN) | NP_001243779.1:p.Asn29005His | |
| NM_001267550.2:c.91936A>C (TTN) MANE Select | NP_001254479.2:p.Asn30646His | |
| NM_003319.4:c.64741A>C (TTN) | NP_003310.4:p.Asn21581His | |
| NM_133378.4:c.84232A>C (TTN) | NP_596869.4:p.Asn28078His | |
| NM_133432.3:c.65116A>C (TTN) | NP_597676.3:p.Asn21706His | |
| NM_133437.4:c.65317A>C (TTN) | NP_597681.4:p.Asn21773His | |
| NR_038271.1:n.447-21514T>G (TTN-AS1) | ||
| NR_038272.1:n.2043+7425T>G (TTN-AS1) | ||
| XM_011511729.1:c.91033A>C (TTN) | XP_011510031.1:p.Asn30345His | |
| XM_011511730.1:c.64927A>C (TTN) | XP_011510032.1:p.Asn21643His | |
| XM_011511731.1:c.64786A>C (TTN) | XP_011510033.1:p.Asn21596His | |
| XM_017004819.1:c.90829A>C (TTN) | XP_016860308.1:p.Asn30277His | |
| XM_017004820.1:c.86227A>C (TTN) | XP_016860309.1:p.Asn28743His | |
| XM_017004821.1:c.86224A>C (TTN) | XP_016860310.1:p.Asn28742His | |
| XM_017004822.1:c.83266A>C (TTN) | XP_016860311.1:p.Asn27756His | |
| XM_017004823.1:c.64882A>C (TTN) | XP_016860312.1:p.Asn21628His | |
| XM_024453094.1:c.86377A>C (TTN) | XP_024308862.1:p.Asn28793His | |
| XM_024453095.1:c.86374A>C (TTN) | XP_024308863.1:p.Asn28792His | |
| XM_024453096.1:c.85807A>C (TTN) | XP_024308864.1:p.Asn28603His | |
| XM_024453097.1:c.83149A>C (TTN) | XP_024308865.1:p.Asn27717His | |
| XM_024453098.1:c.83068A>C (TTN) | XP_024308866.1:p.Asn27690His | |
| XM_024453099.1:c.64831A>C (TTN) | XP_024308867.1:p.Asn21611His | |
| XM_024453100.1:c.54685A>C (TTN) | XP_024308868.1:p.Asn18229His |