Linked Data
ClinVar Variation Id:
467704
dbSNP Id:
rs775915301
ExAC:
2:179404240 C / T
gnomAD v2:
2-179404240-C-T
gnomAD v3:
2-178539513-C-T
gnomAD v4:
2-178539513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178539513C>T , CM000664.2:g.178539513C>T | GRCh38 |
| NC_000002.11:g.179404240C>T , CM000664.1:g.179404240C>T | GRCh37 |
| NC_000002.10:g.179112486C>T | NCBI36 |
| NG_011618.3:g.296290G>A , LRG_391:g.296290G>A | |
| NG_051363.1:g.21687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.90848G>A (TTN) | ENSP00000343764.6:p.Arg30283Gln | |
| ENST00000342175.11:c.71933G>A (TTN) | ENSP00000340554.6:p.Arg23978Gln | |
| ENST00000359218.10:c.71732G>A (TTN) | ENSP00000352154.5:p.Arg23911Gln | |
| ENST00000342175.10:c.71933G>A (TTN) | ENSP00000340554.6:p.Arg23978Gln | |
| ENST00000342992.10:c.90848G>A (TTN) | ENSP00000343764.6:p.Arg30283Gln | |
| ENST00000359218.9:c.71732G>A (TTN) | ENSP00000352154.5:p.Arg23911Gln | |
| ENST00000460472.6:c.71357G>A (TTN) | ENSP00000434586.1:p.Arg23786Gln | |
| ENST00000589042.5:c.98552G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg32851Gln | |
| ENST00000591111.5:c.93629G>A (TTN) | ENSP00000465570.1:p.Arg31210Gln | |
| ENST00000615779.4:c.93629G>A (TTN) | ENSP00000483597.1:p.Arg31210Gln | |
| NM_001256850.1:c.93629G>A (TTN) | NP_001243779.1:p.Arg31210Gln | |
| NM_001267550.2:c.98552G>A (TTN) MANE Select | NP_001254479.2:p.Arg32851Gln | |
| NM_003319.4:c.71357G>A (TTN) | NP_003310.4:p.Arg23786Gln | |
| NM_133378.4:c.90848G>A (TTN) | NP_596869.4:p.Arg30283Gln | |
| NM_133432.3:c.71732G>A (TTN) | NP_597676.3:p.Arg23911Gln | |
| NM_133437.4:c.71933G>A (TTN) | NP_597681.4:p.Arg23978Gln | |
| NR_038271.1:n.446+15877C>T (TTN-AS1) | ||
| NR_038272.1:n.1463C>T (TTN-AS1) | ||
| XM_011511729.1:c.97649G>A (TTN) | XP_011510031.1:p.Arg32550Gln | |
| XM_011511730.1:c.71543G>A (TTN) | XP_011510032.1:p.Arg23848Gln | |
| XM_011511731.1:c.71402G>A (TTN) | XP_011510033.1:p.Arg23801Gln | |
| XM_017004819.1:c.97445G>A (TTN) | XP_016860308.1:p.Arg32482Gln | |
| XM_017004820.1:c.92843G>A (TTN) | XP_016860309.1:p.Arg30948Gln | |
| XM_017004821.1:c.92840G>A (TTN) | XP_016860310.1:p.Arg30947Gln | |
| XM_017004822.1:c.89882G>A (TTN) | XP_016860311.1:p.Arg29961Gln | |
| XM_017004823.1:c.71498G>A (TTN) | XP_016860312.1:p.Arg23833Gln | |
| XM_024453094.1:c.92993G>A (TTN) | XP_024308862.1:p.Arg30998Gln | |
| XM_024453095.1:c.92990G>A (TTN) | XP_024308863.1:p.Arg30997Gln | |
| XM_024453096.1:c.92423G>A (TTN) | XP_024308864.1:p.Arg30808Gln | |
| XM_024453097.1:c.89765G>A (TTN) | XP_024308865.1:p.Arg29922Gln | |
| XM_024453098.1:c.89684G>A (TTN) | XP_024308866.1:p.Arg29895Gln | |
| XM_024453099.1:c.71447G>A (TTN) | XP_024308867.1:p.Arg23816Gln | |
| XM_024453100.1:c.61301G>A (TTN) | XP_024308868.1:p.Arg20434Gln |