Linked Data
ClinVar Variation Id:
202695
dbSNP Id:
rs573695008
ExAC:
2:179474446 C / T
gnomAD v2:
2-179474446-C-T
gnomAD v3:
2-178609719-C-T
gnomAD v4:
2-178609719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178609719C>T , CM000664.2:g.178609719C>T | GRCh38 |
| NC_000002.11:g.179474446C>T , CM000664.1:g.179474446C>T | GRCh37 |
| NC_000002.10:g.179182691C>T | NCBI36 |
| NG_011618.3:g.226084G>A , LRG_391:g.226084G>A | |
| NG_051363.1:g.91893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44000G>A (TTN) | ENSP00000343764.6:p.Arg14667Gln | |
| ENST00000342175.11:c.25085G>A (TTN) | ENSP00000340554.6:p.Arg8362Gln | |
| ENST00000359218.10:c.24884G>A (TTN) | ENSP00000352154.5:p.Arg8295Gln | |
| ENST00000342175.10:c.25085G>A (TTN) | ENSP00000340554.6:p.Arg8362Gln | |
| ENST00000342992.10:c.44000G>A (TTN) | ENSP00000343764.6:p.Arg14667Gln | |
| ENST00000359218.9:c.24884G>A (TTN) | ENSP00000352154.5:p.Arg8295Gln | |
| ENST00000460472.6:c.24509G>A (TTN) | ENSP00000434586.1:p.Arg8170Gln | |
| ENST00000589042.5:c.51704G>A (TTN) MANE Select | ENSP00000467141.1:p.Arg17235Gln | |
| ENST00000591111.5:c.46781G>A (TTN) | ENSP00000465570.1:p.Arg15594Gln | |
| ENST00000615779.4:c.46781G>A (TTN) | ENSP00000483597.1:p.Arg15594Gln | |
| NM_001256850.1:c.46781G>A (TTN) | NP_001243779.1:p.Arg15594Gln | |
| NM_001267550.2:c.51704G>A (TTN) MANE Select | NP_001254479.2:p.Arg17235Gln | |
| NM_003319.4:c.24509G>A (TTN) | NP_003310.4:p.Arg8170Gln | |
| NM_133378.4:c.44000G>A (TTN) | NP_596869.4:p.Arg14667Gln | |
| NM_133432.3:c.24884G>A (TTN) | NP_597676.3:p.Arg8295Gln | |
| NM_133437.4:c.25085G>A (TTN) | NP_597681.4:p.Arg8362Gln | |
| NR_038271.1:n.782+1453C>T (TTN-AS1) | ||
| XM_011511729.1:c.50801G>A (TTN) | XP_011510031.1:p.Arg16934Gln | |
| XM_011511730.1:c.24695G>A (TTN) | XP_011510032.1:p.Arg8232Gln | |
| XM_011511731.1:c.24554G>A (TTN) | XP_011510033.1:p.Arg8185Gln | |
| XM_017004819.1:c.50597G>A (TTN) | XP_016860308.1:p.Arg16866Gln | |
| XM_017004820.1:c.45995G>A (TTN) | XP_016860309.1:p.Arg15332Gln | |
| XM_017004821.1:c.45992G>A (TTN) | XP_016860310.1:p.Arg15331Gln | |
| XM_017004822.1:c.43034G>A (TTN) | XP_016860311.1:p.Arg14345Gln | |
| XM_017004823.1:c.24650G>A (TTN) | XP_016860312.1:p.Arg8217Gln | |
| XM_024453094.1:c.46145G>A (TTN) | XP_024308862.1:p.Arg15382Gln | |
| XM_024453095.1:c.46142G>A (TTN) | XP_024308863.1:p.Arg15381Gln | |
| XM_024453096.1:c.45575G>A (TTN) | XP_024308864.1:p.Arg15192Gln | |
| XM_024453097.1:c.42917G>A (TTN) | XP_024308865.1:p.Arg14306Gln | |
| XM_024453098.1:c.42836G>A (TTN) | XP_024308866.1:p.Arg14279Gln | |
| XM_024453099.1:c.24599G>A (TTN) | XP_024308867.1:p.Arg8200Gln | |
| XM_024453100.1:c.14453G>A (TTN) | XP_024308868.1:p.Arg4818Gln |