Linked Data
ClinVar Variation Id:
467456
dbSNP Id:
rs370931683
ExAC:
2:179437540 A / G
gnomAD v2:
2-179437540-A-G
gnomAD v3:
2-178572813-A-G
gnomAD v4:
2-178572813-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178572813A>G , CM000664.2:g.178572813A>G | GRCh38 |
| NC_000002.11:g.179437540A>G , CM000664.1:g.179437540A>G | GRCh37 |
| NC_000002.10:g.179145786A>G | NCBI36 |
| NG_011618.3:g.262990T>C , LRG_391:g.262990T>C | |
| NG_051363.1:g.54987A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.65615T>C (TTN) | ENSP00000343764.6:p.Ile21872Thr | |
| ENST00000342175.11:c.46700T>C (TTN) | ENSP00000340554.6:p.Ile15567Thr | |
| ENST00000359218.10:c.46499T>C (TTN) | ENSP00000352154.5:p.Ile15500Thr | |
| ENST00000342175.10:c.46700T>C (TTN) | ENSP00000340554.6:p.Ile15567Thr | |
| ENST00000342992.10:c.65615T>C (TTN) | ENSP00000343764.6:p.Ile21872Thr | |
| ENST00000359218.9:c.46499T>C (TTN) | ENSP00000352154.5:p.Ile15500Thr | |
| ENST00000460472.6:c.46124T>C (TTN) | ENSP00000434586.1:p.Ile15375Thr | |
| ENST00000589042.5:c.73319T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile24440Thr | |
| ENST00000591111.5:c.68396T>C (TTN) | ENSP00000465570.1:p.Ile22799Thr | |
| ENST00000615779.4:c.68396T>C (TTN) | ENSP00000483597.1:p.Ile22799Thr | |
| NM_001256850.1:c.68396T>C (TTN) | NP_001243779.1:p.Ile22799Thr | |
| NM_001267550.2:c.73319T>C (TTN) MANE Select | NP_001254479.2:p.Ile24440Thr | |
| NM_003319.4:c.46124T>C (TTN) | NP_003310.4:p.Ile15375Thr | |
| NM_133378.4:c.65615T>C (TTN) | NP_596869.4:p.Ile21872Thr | |
| NM_133432.3:c.46499T>C (TTN) | NP_597676.3:p.Ile15500Thr | |
| NM_133437.4:c.46700T>C (TTN) | NP_597681.4:p.Ile15567Thr | |
| NR_038271.1:n.596+1364A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-9759A>G (TTN-AS1) | ||
| XM_011511729.1:c.72416T>C (TTN) | XP_011510031.1:p.Ile24139Thr | |
| XM_011511730.1:c.46310T>C (TTN) | XP_011510032.1:p.Ile15437Thr | |
| XM_011511731.1:c.46169T>C (TTN) | XP_011510033.1:p.Ile15390Thr | |
| XM_017004819.1:c.72212T>C (TTN) | XP_016860308.1:p.Ile24071Thr | |
| XM_017004820.1:c.67610T>C (TTN) | XP_016860309.1:p.Ile22537Thr | |
| XM_017004821.1:c.67607T>C (TTN) | XP_016860310.1:p.Ile22536Thr | |
| XM_017004822.1:c.64649T>C (TTN) | XP_016860311.1:p.Ile21550Thr | |
| XM_017004823.1:c.46265T>C (TTN) | XP_016860312.1:p.Ile15422Thr | |
| XM_024453094.1:c.67760T>C (TTN) | XP_024308862.1:p.Ile22587Thr | |
| XM_024453095.1:c.67757T>C (TTN) | XP_024308863.1:p.Ile22586Thr | |
| XM_024453096.1:c.67190T>C (TTN) | XP_024308864.1:p.Ile22397Thr | |
| XM_024453097.1:c.64532T>C (TTN) | XP_024308865.1:p.Ile21511Thr | |
| XM_024453098.1:c.64451T>C (TTN) | XP_024308866.1:p.Ile21484Thr | |
| XM_024453099.1:c.46214T>C (TTN) | XP_024308867.1:p.Ile15405Thr | |
| XM_024453100.1:c.36068T>C (TTN) | XP_024308868.1:p.Ile12023Thr |