Linked Data
ClinVar Variation Id:
450910
dbSNP Id:
rs555405542
ExAC:
2:179412436 A / G
gnomAD v2:
2-179412436-A-G
gnomAD v3:
2-178547709-A-G
gnomAD v4:
2-178547709-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178547709A>G , CM000664.2:g.178547709A>G | GRCh38 |
| NC_000002.11:g.179412436A>G , CM000664.1:g.179412436A>G | GRCh37 |
| NC_000002.10:g.179120682A>G | NCBI36 |
| NG_011618.3:g.288094T>C , LRG_391:g.288094T>C | |
| NG_051363.1:g.29883A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86213T>C (TTN) | ENSP00000343764.6:p.Ile28738Thr | |
| ENST00000342175.11:c.67298T>C (TTN) | ENSP00000340554.6:p.Ile22433Thr | |
| ENST00000359218.10:c.67097T>C (TTN) | ENSP00000352154.5:p.Ile22366Thr | |
| ENST00000342175.10:c.67298T>C (TTN) | ENSP00000340554.6:p.Ile22433Thr | |
| ENST00000342992.10:c.86213T>C (TTN) | ENSP00000343764.6:p.Ile28738Thr | |
| ENST00000359218.9:c.67097T>C (TTN) | ENSP00000352154.5:p.Ile22366Thr | |
| ENST00000460472.6:c.66722T>C (TTN) | ENSP00000434586.1:p.Ile22241Thr | |
| ENST00000589042.5:c.93917T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile31306Thr | |
| ENST00000591111.5:c.88994T>C (TTN) | ENSP00000465570.1:p.Ile29665Thr | |
| ENST00000615779.4:c.88994T>C (TTN) | ENSP00000483597.1:p.Ile29665Thr | |
| NM_001256850.1:c.88994T>C (TTN) | NP_001243779.1:p.Ile29665Thr | |
| NM_001267550.2:c.93917T>C (TTN) MANE Select | NP_001254479.2:p.Ile31306Thr | |
| NM_003319.4:c.66722T>C (TTN) | NP_003310.4:p.Ile22241Thr | |
| NM_133378.4:c.86213T>C (TTN) | NP_596869.4:p.Ile28738Thr | |
| NM_133432.3:c.67097T>C (TTN) | NP_597676.3:p.Ile22366Thr | |
| NM_133437.4:c.67298T>C (TTN) | NP_597681.4:p.Ile22433Thr | |
| NR_038271.1:n.447-23591A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+5348A>G (TTN-AS1) | ||
| XM_011511729.1:c.93014T>C (TTN) | XP_011510031.1:p.Ile31005Thr | |
| XM_011511730.1:c.66908T>C (TTN) | XP_011510032.1:p.Ile22303Thr | |
| XM_011511731.1:c.66767T>C (TTN) | XP_011510033.1:p.Ile22256Thr | |
| XM_017004819.1:c.92810T>C (TTN) | XP_016860308.1:p.Ile30937Thr | |
| XM_017004820.1:c.88208T>C (TTN) | XP_016860309.1:p.Ile29403Thr | |
| XM_017004821.1:c.88205T>C (TTN) | XP_016860310.1:p.Ile29402Thr | |
| XM_017004822.1:c.85247T>C (TTN) | XP_016860311.1:p.Ile28416Thr | |
| XM_017004823.1:c.66863T>C (TTN) | XP_016860312.1:p.Ile22288Thr | |
| XM_024453094.1:c.88358T>C (TTN) | XP_024308862.1:p.Ile29453Thr | |
| XM_024453095.1:c.88355T>C (TTN) | XP_024308863.1:p.Ile29452Thr | |
| XM_024453096.1:c.87788T>C (TTN) | XP_024308864.1:p.Ile29263Thr | |
| XM_024453097.1:c.85130T>C (TTN) | XP_024308865.1:p.Ile28377Thr | |
| XM_024453098.1:c.85049T>C (TTN) | XP_024308866.1:p.Ile28350Thr | |
| XM_024453099.1:c.66812T>C (TTN) | XP_024308867.1:p.Ile22271Thr | |
| XM_024453100.1:c.56666T>C (TTN) | XP_024308868.1:p.Ile18889Thr |