Linked Data
ClinVar Variation Id:
228126
dbSNP Id:
rs746956869
ExAC:
2:179448590 A / G
gnomAD v2:
2-179448590-A-G
gnomAD v3:
2-178583863-A-G
gnomAD v4:
2-178583863-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583863A>G , CM000664.2:g.178583863A>G | GRCh38 |
| NC_000002.11:g.179448590A>G , CM000664.1:g.179448590A>G | GRCh37 |
| NC_000002.10:g.179156836A>G | NCBI36 |
| NG_011618.3:g.251940T>C , LRG_391:g.251940T>C | |
| NG_051363.1:g.66037A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57615T>C (TTN) | ENSP00000343764.6:p.Thr19205= | |
| ENST00000342175.11:c.38700T>C (TTN) | ENSP00000340554.6:p.Thr12900= | |
| ENST00000359218.10:c.38499T>C (TTN) | ENSP00000352154.5:p.Thr12833= | |
| ENST00000342175.10:c.38700T>C (TTN) | ENSP00000340554.6:p.Thr12900= | |
| ENST00000342992.10:c.57615T>C (TTN) | ENSP00000343764.6:p.Thr19205= | |
| ENST00000359218.9:c.38499T>C (TTN) | ENSP00000352154.5:p.Thr12833= | |
| ENST00000460472.6:c.38124T>C (TTN) | ENSP00000434586.1:p.Thr12708= | |
| ENST00000589042.5:c.65319T>C (TTN) MANE Select | ENSP00000467141.1:p.Thr21773= | |
| ENST00000591111.5:c.60396T>C (TTN) | ENSP00000465570.1:p.Thr20132= | |
| ENST00000615779.4:c.60396T>C (TTN) | ENSP00000483597.1:p.Thr20132= | |
| NM_001256850.1:c.60396T>C (TTN) | NP_001243779.1:p.Thr20132= | |
| NM_001267550.2:c.65319T>C (TTN) MANE Select | NP_001254479.2:p.Thr21773= | |
| NM_003319.4:c.38124T>C (TTN) | NP_003310.4:p.Thr12708= | |
| NM_133378.4:c.57615T>C (TTN) | NP_596869.4:p.Thr19205= | |
| NM_133432.3:c.38499T>C (TTN) | NP_597676.3:p.Thr12833= | |
| NM_133437.4:c.38700T>C (TTN) | NP_597681.4:p.Thr12900= | |
| NR_038271.1:n.596+12414A>G (TTN-AS1) | ||
| NR_038272.1:n.2709A>G (TTN-AS1) | ||
| XM_011511729.1:c.64416T>C (TTN) | XP_011510031.1:p.Thr21472= | |
| XM_011511730.1:c.38310T>C (TTN) | XP_011510032.1:p.Thr12770= | |
| XM_011511731.1:c.38169T>C (TTN) | XP_011510033.1:p.Thr12723= | |
| XM_017004819.1:c.64212T>C (TTN) | XP_016860308.1:p.Thr21404= | |
| XM_017004820.1:c.59610T>C (TTN) | XP_016860309.1:p.Thr19870= | |
| XM_017004821.1:c.59607T>C (TTN) | XP_016860310.1:p.Thr19869= | |
| XM_017004822.1:c.56649T>C (TTN) | XP_016860311.1:p.Thr18883= | |
| XM_017004823.1:c.38265T>C (TTN) | XP_016860312.1:p.Thr12755= | |
| XM_024453094.1:c.59760T>C (TTN) | XP_024308862.1:p.Thr19920= | |
| XM_024453095.1:c.59757T>C (TTN) | XP_024308863.1:p.Thr19919= | |
| XM_024453096.1:c.59190T>C (TTN) | XP_024308864.1:p.Thr19730= | |
| XM_024453097.1:c.56532T>C (TTN) | XP_024308865.1:p.Thr18844= | |
| XM_024453098.1:c.56451T>C (TTN) | XP_024308866.1:p.Thr18817= | |
| XM_024453099.1:c.38214T>C (TTN) | XP_024308867.1:p.Thr12738= | |
| XM_024453100.1:c.28068T>C (TTN) | XP_024308868.1:p.Thr9356= |