Linked Data
ClinVar Variation Id:
47350
ClinVar RCV Id:
RCV000040620
RCV000234701
RCV000277480
RCV000247729
RCV000269503
RCV000313845
RCV000364093
RCV000367544
RCV001081795
RCV000768922
dbSNP Id:
rs55696153
ExAC:
2:179434137 A / G
gnomAD v2:
2-179434137-A-G
gnomAD v3:
2-178569410-A-G
gnomAD v4:
2-178569410-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569410A>G , CM000664.2:g.178569410A>G | GRCh38 |
| NC_000002.11:g.179434137A>G , CM000664.1:g.179434137A>G | GRCh37 |
| NC_000002.10:g.179142383A>G | NCBI36 |
| NG_011618.3:g.266393T>C , LRG_391:g.266393T>C | |
| NG_051363.1:g.51584A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69018T>C (TTN) | ENSP00000343764.6:p.Tyr23006= | |
| ENST00000342175.11:c.50103T>C (TTN) | ENSP00000340554.6:p.Tyr16701= | |
| ENST00000359218.10:c.49902T>C (TTN) | ENSP00000352154.5:p.Tyr16634= | |
| ENST00000342175.10:c.50103T>C (TTN) | ENSP00000340554.6:p.Tyr16701= | |
| ENST00000342992.10:c.69018T>C (TTN) | ENSP00000343764.6:p.Tyr23006= | |
| ENST00000359218.9:c.49902T>C (TTN) | ENSP00000352154.5:p.Tyr16634= | |
| ENST00000460472.6:c.49527T>C (TTN) | ENSP00000434586.1:p.Tyr16509= | |
| ENST00000589042.5:c.76722T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr25574= | |
| ENST00000591111.5:c.71799T>C (TTN) | ENSP00000465570.1:p.Tyr23933= | |
| ENST00000615779.4:c.71799T>C (TTN) | ENSP00000483597.1:p.Tyr23933= | |
| NM_001256850.1:c.71799T>C (TTN) | NP_001243779.1:p.Tyr23933= | |
| NM_001267550.2:c.76722T>C (TTN) MANE Select | NP_001254479.2:p.Tyr25574= | |
| NM_003319.4:c.49527T>C (TTN) | NP_003310.4:p.Tyr16509= | |
| NM_133378.4:c.69018T>C (TTN) | NP_596869.4:p.Tyr23006= | |
| NM_133432.3:c.49902T>C (TTN) | NP_597676.3:p.Tyr16634= | |
| NM_133437.4:c.50103T>C (TTN) | NP_597681.4:p.Tyr16701= | |
| NR_038271.1:n.447-1890A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-13162A>G (TTN-AS1) | ||
| XM_011511729.1:c.75819T>C (TTN) | XP_011510031.1:p.Tyr25273= | |
| XM_011511730.1:c.49713T>C (TTN) | XP_011510032.1:p.Tyr16571= | |
| XM_011511731.1:c.49572T>C (TTN) | XP_011510033.1:p.Tyr16524= | |
| XM_017004819.1:c.75615T>C (TTN) | XP_016860308.1:p.Tyr25205= | |
| XM_017004820.1:c.71013T>C (TTN) | XP_016860309.1:p.Tyr23671= | |
| XM_017004821.1:c.71010T>C (TTN) | XP_016860310.1:p.Tyr23670= | |
| XM_017004822.1:c.68052T>C (TTN) | XP_016860311.1:p.Tyr22684= | |
| XM_017004823.1:c.49668T>C (TTN) | XP_016860312.1:p.Tyr16556= | |
| XM_024453094.1:c.71163T>C (TTN) | XP_024308862.1:p.Tyr23721= | |
| XM_024453095.1:c.71160T>C (TTN) | XP_024308863.1:p.Tyr23720= | |
| XM_024453096.1:c.70593T>C (TTN) | XP_024308864.1:p.Tyr23531= | |
| XM_024453097.1:c.67935T>C (TTN) | XP_024308865.1:p.Tyr22645= | |
| XM_024453098.1:c.67854T>C (TTN) | XP_024308866.1:p.Tyr22618= | |
| XM_024453099.1:c.49617T>C (TTN) | XP_024308867.1:p.Tyr16539= | |
| XM_024453100.1:c.39471T>C (TTN) | XP_024308868.1:p.Tyr13157= |