Linked Data
ClinVar Variation Id:
202312
dbSNP Id:
rs368026488
ExAC:
2:179458078 T / G
gnomAD v2:
2-179458078-T-G
gnomAD v3:
2-178593351-T-G
gnomAD v4:
2-178593351-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593351T>G , CM000664.2:g.178593351T>G | GRCh38 |
| NC_000002.11:g.179458078T>G , CM000664.1:g.179458078T>G | GRCh37 |
| NC_000002.10:g.179166324T>G | NCBI36 |
| NG_011618.3:g.242452A>C , LRG_391:g.242452A>C | |
| NG_051363.1:g.75525T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51153A>C (TTN) | ENSP00000343764.6:p.Glu17051Asp | |
| ENST00000342175.11:c.32238A>C (TTN) | ENSP00000340554.6:p.Glu10746Asp | |
| ENST00000359218.10:c.32037A>C (TTN) | ENSP00000352154.5:p.Glu10679Asp | |
| ENST00000342175.10:c.32238A>C (TTN) | ENSP00000340554.6:p.Glu10746Asp | |
| ENST00000342992.10:c.51153A>C (TTN) | ENSP00000343764.6:p.Glu17051Asp | |
| ENST00000359218.9:c.32037A>C (TTN) | ENSP00000352154.5:p.Glu10679Asp | |
| ENST00000460472.6:c.31662A>C (TTN) | ENSP00000434586.1:p.Glu10554Asp | |
| ENST00000589042.5:c.58857A>C (TTN) MANE Select | ENSP00000467141.1:p.Glu19619Asp | |
| ENST00000591111.5:c.53934A>C (TTN) | ENSP00000465570.1:p.Glu17978Asp | |
| ENST00000615779.4:c.53934A>C (TTN) | ENSP00000483597.1:p.Glu17978Asp | |
| NM_001256850.1:c.53934A>C (TTN) | NP_001243779.1:p.Glu17978Asp | |
| NM_001267550.2:c.58857A>C (TTN) MANE Select | NP_001254479.2:p.Glu19619Asp | |
| NM_003319.4:c.31662A>C (TTN) | NP_003310.4:p.Glu10554Asp | |
| NM_133378.4:c.51153A>C (TTN) | NP_596869.4:p.Glu17051Asp | |
| NM_133432.3:c.32037A>C (TTN) | NP_597676.3:p.Glu10679Asp | |
| NM_133437.4:c.32238A>C (TTN) | NP_597681.4:p.Glu10746Asp | |
| NR_038271.1:n.597-4245T>G (TTN-AS1) | ||
| NR_038272.1:n.3364+2037T>G (TTN-AS1) | ||
| XM_011511729.1:c.57954A>C (TTN) | XP_011510031.1:p.Glu19318Asp | |
| XM_011511730.1:c.31848A>C (TTN) | XP_011510032.1:p.Glu10616Asp | |
| XM_011511731.1:c.31707A>C (TTN) | XP_011510033.1:p.Glu10569Asp | |
| XM_017004819.1:c.57750A>C (TTN) | XP_016860308.1:p.Glu19250Asp | |
| XM_017004820.1:c.53148A>C (TTN) | XP_016860309.1:p.Glu17716Asp | |
| XM_017004821.1:c.53145A>C (TTN) | XP_016860310.1:p.Glu17715Asp | |
| XM_017004822.1:c.50187A>C (TTN) | XP_016860311.1:p.Glu16729Asp | |
| XM_017004823.1:c.31803A>C (TTN) | XP_016860312.1:p.Glu10601Asp | |
| XM_024453094.1:c.53298A>C (TTN) | XP_024308862.1:p.Glu17766Asp | |
| XM_024453095.1:c.53295A>C (TTN) | XP_024308863.1:p.Glu17765Asp | |
| XM_024453096.1:c.52728A>C (TTN) | XP_024308864.1:p.Glu17576Asp | |
| XM_024453097.1:c.50070A>C (TTN) | XP_024308865.1:p.Glu16690Asp | |
| XM_024453098.1:c.49989A>C (TTN) | XP_024308866.1:p.Glu16663Asp | |
| XM_024453099.1:c.31752A>C (TTN) | XP_024308867.1:p.Glu10584Asp | |
| XM_024453100.1:c.21606A>C (TTN) | XP_024308868.1:p.Glu7202Asp |