Linked Data
ClinVar Variation Id:
284098
dbSNP Id:
rs202200861
ExAC:
2:179472189 A / G
gnomAD v2:
2-179472189-A-G
gnomAD v3:
2-178607462-A-G
gnomAD v4:
2-178607462-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178607462A>G , CM000664.2:g.178607462A>G | GRCh38 |
| NC_000002.11:g.179472189A>G , CM000664.1:g.179472189A>G | GRCh37 |
| NC_000002.10:g.179180434A>G | NCBI36 |
| NG_011618.3:g.228341T>C , LRG_391:g.228341T>C | |
| NG_051363.1:g.89636A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.45522T>C (TTN) | ENSP00000343764.6:p.Tyr15174= | |
| ENST00000342175.11:c.26607T>C (TTN) | ENSP00000340554.6:p.Tyr8869= | |
| ENST00000359218.10:c.26406T>C (TTN) | ENSP00000352154.5:p.Tyr8802= | |
| ENST00000342175.10:c.26607T>C (TTN) | ENSP00000340554.6:p.Tyr8869= | |
| ENST00000342992.10:c.45522T>C (TTN) | ENSP00000343764.6:p.Tyr15174= | |
| ENST00000359218.9:c.26406T>C (TTN) | ENSP00000352154.5:p.Tyr8802= | |
| ENST00000460472.6:c.26031T>C (TTN) | ENSP00000434586.1:p.Tyr8677= | |
| ENST00000589042.5:c.53226T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr17742= | |
| ENST00000591111.5:c.48303T>C (TTN) | ENSP00000465570.1:p.Tyr16101= | |
| ENST00000615779.4:c.48303T>C (TTN) | ENSP00000483597.1:p.Tyr16101= | |
| NM_001256850.1:c.48303T>C (TTN) | NP_001243779.1:p.Tyr16101= | |
| NM_001267550.2:c.53226T>C (TTN) MANE Select | NP_001254479.2:p.Tyr17742= | |
| NM_003319.4:c.26031T>C (TTN) | NP_003310.4:p.Tyr8677= | |
| NM_133378.4:c.45522T>C (TTN) | NP_596869.4:p.Tyr15174= | |
| NM_133432.3:c.26406T>C (TTN) | NP_597676.3:p.Tyr8802= | |
| NM_133437.4:c.26607T>C (TTN) | NP_597681.4:p.Tyr8869= | |
| NR_038271.1:n.683-705A>G (TTN-AS1) | ||
| XM_011511729.1:c.52323T>C (TTN) | XP_011510031.1:p.Tyr17441= | |
| XM_011511730.1:c.26217T>C (TTN) | XP_011510032.1:p.Tyr8739= | |
| XM_011511731.1:c.26076T>C (TTN) | XP_011510033.1:p.Tyr8692= | |
| XM_017004819.1:c.52119T>C (TTN) | XP_016860308.1:p.Tyr17373= | |
| XM_017004820.1:c.47517T>C (TTN) | XP_016860309.1:p.Tyr15839= | |
| XM_017004821.1:c.47514T>C (TTN) | XP_016860310.1:p.Tyr15838= | |
| XM_017004822.1:c.44556T>C (TTN) | XP_016860311.1:p.Tyr14852= | |
| XM_017004823.1:c.26172T>C (TTN) | XP_016860312.1:p.Tyr8724= | |
| XM_024453094.1:c.47667T>C (TTN) | XP_024308862.1:p.Tyr15889= | |
| XM_024453095.1:c.47664T>C (TTN) | XP_024308863.1:p.Tyr15888= | |
| XM_024453096.1:c.47097T>C (TTN) | XP_024308864.1:p.Tyr15699= | |
| XM_024453097.1:c.44439T>C (TTN) | XP_024308865.1:p.Tyr14813= | |
| XM_024453098.1:c.44358T>C (TTN) | XP_024308866.1:p.Tyr14786= | |
| XM_024453099.1:c.26121T>C (TTN) | XP_024308867.1:p.Tyr8707= | |
| XM_024453100.1:c.15975T>C (TTN) | XP_024308868.1:p.Tyr5325= |