Linked Data
ClinVar Variation Id:
202283
ClinVar RCV Id:
RCV000184116
RCV000262541
RCV000332750
RCV000367647
RCV000382589
RCV000231588
RCV000620355
RCV000331702
RCV000769859
RCV001726030
RCV004539715
dbSNP Id:
rs367732133
ExAC:
2:179399966 A / G
gnomAD v2:
2-179399966-A-G
gnomAD v3:
2-178535239-A-G
gnomAD v4:
2-178535239-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178535239A>G , CM000664.2:g.178535239A>G | GRCh38 |
| NC_000002.11:g.179399966A>G , CM000664.1:g.179399966A>G | GRCh37 |
| NC_000002.10:g.179108212A>G | NCBI36 |
| NG_011618.3:g.300564T>C , LRG_391:g.300564T>C | |
| NG_051363.1:g.17413A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.93672T>C (TTN) | ENSP00000343764.6:p.Tyr31224= | |
| ENST00000342175.11:c.74757T>C (TTN) | ENSP00000340554.6:p.Tyr24919= | |
| ENST00000359218.10:c.74556T>C (TTN) | ENSP00000352154.5:p.Tyr24852= | |
| ENST00000342175.10:c.74757T>C (TTN) | ENSP00000340554.6:p.Tyr24919= | |
| ENST00000342992.10:c.93672T>C (TTN) | ENSP00000343764.6:p.Tyr31224= | |
| ENST00000359218.9:c.74556T>C (TTN) | ENSP00000352154.5:p.Tyr24852= | |
| ENST00000460472.6:c.74181T>C (TTN) | ENSP00000434586.1:p.Tyr24727= | |
| ENST00000589042.5:c.101376T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr33792= | |
| ENST00000591111.5:c.96453T>C (TTN) | ENSP00000465570.1:p.Tyr32151= | |
| ENST00000615779.4:c.96453T>C (TTN) | ENSP00000483597.1:p.Tyr32151= | |
| NM_001256850.1:c.96453T>C (TTN) | NP_001243779.1:p.Tyr32151= | |
| NM_001267550.2:c.101376T>C (TTN) MANE Select | NP_001254479.2:p.Tyr33792= | |
| NM_003319.4:c.74181T>C (TTN) | NP_003310.4:p.Tyr24727= | |
| NM_133378.4:c.93672T>C (TTN) | NP_596869.4:p.Tyr31224= | |
| NM_133432.3:c.74556T>C (TTN) | NP_597676.3:p.Tyr24852= | |
| NM_133437.4:c.74757T>C (TTN) | NP_597681.4:p.Tyr24919= | |
| NR_038271.1:n.446+11603A>G (TTN-AS1) | ||
| NR_038272.1:n.220-493A>G (TTN-AS1) | ||
| XM_011511729.1:c.100473T>C (TTN) | XP_011510031.1:p.Tyr33491= | |
| XM_011511730.1:c.74367T>C (TTN) | XP_011510032.1:p.Tyr24789= | |
| XM_011511731.1:c.74226T>C (TTN) | XP_011510033.1:p.Tyr24742= | |
| XM_017004819.1:c.100269T>C (TTN) | XP_016860308.1:p.Tyr33423= | |
| XM_017004820.1:c.95667T>C (TTN) | XP_016860309.1:p.Tyr31889= | |
| XM_017004821.1:c.95664T>C (TTN) | XP_016860310.1:p.Tyr31888= | |
| XM_017004822.1:c.92706T>C (TTN) | XP_016860311.1:p.Tyr30902= | |
| XM_017004823.1:c.74322T>C (TTN) | XP_016860312.1:p.Tyr24774= | |
| XM_024453094.1:c.95817T>C (TTN) | XP_024308862.1:p.Tyr31939= | |
| XM_024453095.1:c.95814T>C (TTN) | XP_024308863.1:p.Tyr31938= | |
| XM_024453096.1:c.95247T>C (TTN) | XP_024308864.1:p.Tyr31749= | |
| XM_024453097.1:c.92589T>C (TTN) | XP_024308865.1:p.Tyr30863= | |
| XM_024453098.1:c.92508T>C (TTN) | XP_024308866.1:p.Tyr30836= | |
| XM_024453099.1:c.74271T>C (TTN) | XP_024308867.1:p.Tyr24757= | |
| XM_024453100.1:c.64125T>C (TTN) | XP_024308868.1:p.Tyr21375= |