Linked Data
ClinVar Variation Id:
202277
ClinVar RCV Id:
RCV000184110
dbSNP Id:
rs376959563
ExAC:
2:179455831 A / G
gnomAD v2:
2-179455831-A-G
gnomAD v3:
2-178591104-A-G
gnomAD v4:
2-178591104-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591104A>G , CM000664.2:g.178591104A>G | GRCh38 |
| NC_000002.11:g.179455831A>G , CM000664.1:g.179455831A>G | GRCh37 |
| NC_000002.10:g.179164077A>G | NCBI36 |
| NG_011618.3:g.244699T>C , LRG_391:g.244699T>C | |
| NG_051363.1:g.73278A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.52917T>C (TTN) | ENSP00000343764.6:p.Tyr17639= | |
| ENST00000342175.11:c.34002T>C (TTN) | ENSP00000340554.6:p.Tyr11334= | |
| ENST00000359218.10:c.33801T>C (TTN) | ENSP00000352154.5:p.Tyr11267= | |
| ENST00000342175.10:c.34002T>C (TTN) | ENSP00000340554.6:p.Tyr11334= | |
| ENST00000342992.10:c.52917T>C (TTN) | ENSP00000343764.6:p.Tyr17639= | |
| ENST00000359218.9:c.33801T>C (TTN) | ENSP00000352154.5:p.Tyr11267= | |
| ENST00000460472.6:c.33426T>C (TTN) | ENSP00000434586.1:p.Tyr11142= | |
| ENST00000589042.5:c.60621T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr20207= | |
| ENST00000591111.5:c.55698T>C (TTN) | ENSP00000465570.1:p.Tyr18566= | |
| ENST00000615779.4:c.55698T>C (TTN) | ENSP00000483597.1:p.Tyr18566= | |
| NM_001256850.1:c.55698T>C (TTN) | NP_001243779.1:p.Tyr18566= | |
| NM_001267550.2:c.60621T>C (TTN) MANE Select | NP_001254479.2:p.Tyr20207= | |
| NM_003319.4:c.33426T>C (TTN) | NP_003310.4:p.Tyr11142= | |
| NM_133378.4:c.52917T>C (TTN) | NP_596869.4:p.Tyr17639= | |
| NM_133432.3:c.33801T>C (TTN) | NP_597676.3:p.Tyr11267= | |
| NM_133437.4:c.34002T>C (TTN) | NP_597681.4:p.Tyr11334= | |
| NR_038271.1:n.597-6492A>G (TTN-AS1) | ||
| NR_038272.1:n.3189-35A>G (TTN-AS1) | ||
| XM_011511729.1:c.59718T>C (TTN) | XP_011510031.1:p.Tyr19906= | |
| XM_011511730.1:c.33612T>C (TTN) | XP_011510032.1:p.Tyr11204= | |
| XM_011511731.1:c.33471T>C (TTN) | XP_011510033.1:p.Tyr11157= | |
| XM_017004819.1:c.59514T>C (TTN) | XP_016860308.1:p.Tyr19838= | |
| XM_017004820.1:c.54912T>C (TTN) | XP_016860309.1:p.Tyr18304= | |
| XM_017004821.1:c.54909T>C (TTN) | XP_016860310.1:p.Tyr18303= | |
| XM_017004822.1:c.51951T>C (TTN) | XP_016860311.1:p.Tyr17317= | |
| XM_017004823.1:c.33567T>C (TTN) | XP_016860312.1:p.Tyr11189= | |
| XM_024453094.1:c.55062T>C (TTN) | XP_024308862.1:p.Tyr18354= | |
| XM_024453095.1:c.55059T>C (TTN) | XP_024308863.1:p.Tyr18353= | |
| XM_024453096.1:c.54492T>C (TTN) | XP_024308864.1:p.Tyr18164= | |
| XM_024453097.1:c.51834T>C (TTN) | XP_024308865.1:p.Tyr17278= | |
| XM_024453098.1:c.51753T>C (TTN) | XP_024308866.1:p.Tyr17251= | |
| XM_024453099.1:c.33516T>C (TTN) | XP_024308867.1:p.Tyr11172= | |
| XM_024453100.1:c.23370T>C (TTN) | XP_024308868.1:p.Tyr7790= |