Linked Data
ClinVar Variation Id:
332776
ClinVar RCV Id:
RCV000294111
RCV000295472
RCV000330523
RCV000345752
RCV000389701
RCV000593016
RCV002057618
dbSNP Id:
rs868081432
gnomAD v2:
2-179434563-A-G
gnomAD v4:
2-178569836-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569836A>G , CM000664.2:g.178569836A>G | GRCh38 |
| NC_000002.11:g.179434563A>G , CM000664.1:g.179434563A>G | GRCh37 |
| NC_000002.10:g.179142809A>G | NCBI36 |
| NG_011618.3:g.265967T>C , LRG_391:g.265967T>C | |
| NG_051363.1:g.52010A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68592T>C (TTN) | ENSP00000343764.6:p.Asp22864= | |
| ENST00000342175.11:c.49677T>C (TTN) | ENSP00000340554.6:p.Asp16559= | |
| ENST00000359218.10:c.49476T>C (TTN) | ENSP00000352154.5:p.Asp16492= | |
| ENST00000342175.10:c.49677T>C (TTN) | ENSP00000340554.6:p.Asp16559= | |
| ENST00000342992.10:c.68592T>C (TTN) | ENSP00000343764.6:p.Asp22864= | |
| ENST00000359218.9:c.49476T>C (TTN) | ENSP00000352154.5:p.Asp16492= | |
| ENST00000460472.6:c.49101T>C (TTN) | ENSP00000434586.1:p.Asp16367= | |
| ENST00000589042.5:c.76296T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp25432= | |
| ENST00000591111.5:c.71373T>C (TTN) | ENSP00000465570.1:p.Asp23791= | |
| ENST00000615779.4:c.71373T>C (TTN) | ENSP00000483597.1:p.Asp23791= | |
| NM_001256850.1:c.71373T>C (TTN) | NP_001243779.1:p.Asp23791= | |
| NM_001267550.2:c.76296T>C (TTN) MANE Select | NP_001254479.2:p.Asp25432= | |
| NM_003319.4:c.49101T>C (TTN) | NP_003310.4:p.Asp16367= | |
| NM_133378.4:c.68592T>C (TTN) | NP_596869.4:p.Asp22864= | |
| NM_133432.3:c.49476T>C (TTN) | NP_597676.3:p.Asp16492= | |
| NM_133437.4:c.49677T>C (TTN) | NP_597681.4:p.Asp16559= | |
| NR_038271.1:n.447-1464A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-12736A>G (TTN-AS1) | ||
| XM_011511729.1:c.75393T>C (TTN) | XP_011510031.1:p.Asp25131= | |
| XM_011511730.1:c.49287T>C (TTN) | XP_011510032.1:p.Asp16429= | |
| XM_011511731.1:c.49146T>C (TTN) | XP_011510033.1:p.Asp16382= | |
| XM_017004819.1:c.75189T>C (TTN) | XP_016860308.1:p.Asp25063= | |
| XM_017004820.1:c.70587T>C (TTN) | XP_016860309.1:p.Asp23529= | |
| XM_017004821.1:c.70584T>C (TTN) | XP_016860310.1:p.Asp23528= | |
| XM_017004822.1:c.67626T>C (TTN) | XP_016860311.1:p.Asp22542= | |
| XM_017004823.1:c.49242T>C (TTN) | XP_016860312.1:p.Asp16414= | |
| XM_024453094.1:c.70737T>C (TTN) | XP_024308862.1:p.Asp23579= | |
| XM_024453095.1:c.70734T>C (TTN) | XP_024308863.1:p.Asp23578= | |
| XM_024453096.1:c.70167T>C (TTN) | XP_024308864.1:p.Asp23389= | |
| XM_024453097.1:c.67509T>C (TTN) | XP_024308865.1:p.Asp22503= | |
| XM_024453098.1:c.67428T>C (TTN) | XP_024308866.1:p.Asp22476= | |
| XM_024453099.1:c.49191T>C (TTN) | XP_024308867.1:p.Asp16397= | |
| XM_024453100.1:c.39045T>C (TTN) | XP_024308868.1:p.Asp13015= |