Linked Data
ClinVar Variation Id:
228104
ClinVar RCV Id:
RCV000213520
RCV001079373
RCV001133881
RCV002444859
RCV000725262
RCV001130913
RCV001130914
RCV001130915
RCV001130916
RCV004541333
dbSNP Id:
rs72677247
ExAC:
2:179477690 A / G
gnomAD v2:
2-179477690-A-G
gnomAD v3:
2-178612963-A-G
gnomAD v4:
2-178612963-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612963A>G , CM000664.2:g.178612963A>G | GRCh38 |
| NC_000002.11:g.179477690A>G , CM000664.1:g.179477690A>G | GRCh37 |
| NC_000002.10:g.179185935A>G | NCBI36 |
| NG_011618.3:g.222840T>C , LRG_391:g.222840T>C | |
| NG_051363.1:g.95137A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42054T>C (TTN) | ENSP00000343764.6:p.Tyr14018= | |
| ENST00000342175.11:c.23139T>C (TTN) | ENSP00000340554.6:p.Tyr7713= | |
| ENST00000359218.10:c.22938T>C (TTN) | ENSP00000352154.5:p.Tyr7646= | |
| ENST00000342175.10:c.23139T>C (TTN) | ENSP00000340554.6:p.Tyr7713= | |
| ENST00000342992.10:c.42054T>C (TTN) | ENSP00000343764.6:p.Tyr14018= | |
| ENST00000359218.9:c.22938T>C (TTN) | ENSP00000352154.5:p.Tyr7646= | |
| ENST00000460472.6:c.22563T>C (TTN) | ENSP00000434586.1:p.Tyr7521= | |
| ENST00000589042.5:c.49758T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr16586= | |
| ENST00000591111.5:c.44835T>C (TTN) | ENSP00000465570.1:p.Tyr14945= | |
| ENST00000615779.4:c.44835T>C (TTN) | ENSP00000483597.1:p.Tyr14945= | |
| NM_001256850.1:c.44835T>C (TTN) | NP_001243779.1:p.Tyr14945= | |
| NM_001267550.2:c.49758T>C (TTN) MANE Select | NP_001254479.2:p.Tyr16586= | |
| NM_003319.4:c.22563T>C (TTN) | NP_003310.4:p.Tyr7521= | |
| NM_133378.4:c.42054T>C (TTN) | NP_596869.4:p.Tyr14018= | |
| NM_133432.3:c.22938T>C (TTN) | NP_597676.3:p.Tyr7646= | |
| NM_133437.4:c.23139T>C (TTN) | NP_597681.4:p.Tyr7713= | |
| NR_038271.1:n.783-1072A>G (TTN-AS1) | ||
| XM_011511729.1:c.48855T>C (TTN) | XP_011510031.1:p.Tyr16285= | |
| XM_011511730.1:c.22749T>C (TTN) | XP_011510032.1:p.Tyr7583= | |
| XM_011511731.1:c.22608T>C (TTN) | XP_011510033.1:p.Tyr7536= | |
| XM_017004819.1:c.48651T>C (TTN) | XP_016860308.1:p.Tyr16217= | |
| XM_017004820.1:c.44049T>C (TTN) | XP_016860309.1:p.Tyr14683= | |
| XM_017004821.1:c.44046T>C (TTN) | XP_016860310.1:p.Tyr14682= | |
| XM_017004822.1:c.41088T>C (TTN) | XP_016860311.1:p.Tyr13696= | |
| XM_017004823.1:c.22704T>C (TTN) | XP_016860312.1:p.Tyr7568= | |
| XM_024453094.1:c.44199T>C (TTN) | XP_024308862.1:p.Tyr14733= | |
| XM_024453095.1:c.44196T>C (TTN) | XP_024308863.1:p.Tyr14732= | |
| XM_024453096.1:c.43629T>C (TTN) | XP_024308864.1:p.Tyr14543= | |
| XM_024453097.1:c.40971T>C (TTN) | XP_024308865.1:p.Tyr13657= | |
| XM_024453098.1:c.40890T>C (TTN) | XP_024308866.1:p.Tyr13630= | |
| XM_024453099.1:c.22653T>C (TTN) | XP_024308867.1:p.Tyr7551= | |
| XM_024453100.1:c.12507T>C (TTN) | XP_024308868.1:p.Tyr4169= |