Linked Data
ClinVar Variation Id:
535151
dbSNP Id:
rs371140114
gnomAD v2:
2-179434050-A-G
gnomAD v3:
2-178569323-A-G
gnomAD v4:
2-178569323-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569323A>G , CM000664.2:g.178569323A>G | GRCh38 |
| NC_000002.11:g.179434050A>G , CM000664.1:g.179434050A>G | GRCh37 |
| NC_000002.10:g.179142296A>G | NCBI36 |
| NG_011618.3:g.266480T>C , LRG_391:g.266480T>C | |
| NG_051363.1:g.51497A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.69105T>C (TTN) | ENSP00000343764.6:p.Ser23035= | |
| ENST00000342175.11:c.50190T>C (TTN) | ENSP00000340554.6:p.Ser16730= | |
| ENST00000359218.10:c.49989T>C (TTN) | ENSP00000352154.5:p.Ser16663= | |
| ENST00000342175.10:c.50190T>C (TTN) | ENSP00000340554.6:p.Ser16730= | |
| ENST00000342992.10:c.69105T>C (TTN) | ENSP00000343764.6:p.Ser23035= | |
| ENST00000359218.9:c.49989T>C (TTN) | ENSP00000352154.5:p.Ser16663= | |
| ENST00000460472.6:c.49614T>C (TTN) | ENSP00000434586.1:p.Ser16538= | |
| ENST00000589042.5:c.76809T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser25603= | |
| ENST00000591111.5:c.71886T>C (TTN) | ENSP00000465570.1:p.Ser23962= | |
| ENST00000615779.4:c.71886T>C (TTN) | ENSP00000483597.1:p.Ser23962= | |
| NM_001256850.1:c.71886T>C (TTN) | NP_001243779.1:p.Ser23962= | |
| NM_001267550.2:c.76809T>C (TTN) MANE Select | NP_001254479.2:p.Ser25603= | |
| NM_003319.4:c.49614T>C (TTN) | NP_003310.4:p.Ser16538= | |
| NM_133378.4:c.69105T>C (TTN) | NP_596869.4:p.Ser23035= | |
| NM_133432.3:c.49989T>C (TTN) | NP_597676.3:p.Ser16663= | |
| NM_133437.4:c.50190T>C (TTN) | NP_597681.4:p.Ser16730= | |
| NR_038271.1:n.447-1977A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-13249A>G (TTN-AS1) | ||
| XM_011511729.1:c.75906T>C (TTN) | XP_011510031.1:p.Ser25302= | |
| XM_011511730.1:c.49800T>C (TTN) | XP_011510032.1:p.Ser16600= | |
| XM_011511731.1:c.49659T>C (TTN) | XP_011510033.1:p.Ser16553= | |
| XM_017004819.1:c.75702T>C (TTN) | XP_016860308.1:p.Ser25234= | |
| XM_017004820.1:c.71100T>C (TTN) | XP_016860309.1:p.Ser23700= | |
| XM_017004821.1:c.71097T>C (TTN) | XP_016860310.1:p.Ser23699= | |
| XM_017004822.1:c.68139T>C (TTN) | XP_016860311.1:p.Ser22713= | |
| XM_017004823.1:c.49755T>C (TTN) | XP_016860312.1:p.Ser16585= | |
| XM_024453094.1:c.71250T>C (TTN) | XP_024308862.1:p.Ser23750= | |
| XM_024453095.1:c.71247T>C (TTN) | XP_024308863.1:p.Ser23749= | |
| XM_024453096.1:c.70680T>C (TTN) | XP_024308864.1:p.Ser23560= | |
| XM_024453097.1:c.68022T>C (TTN) | XP_024308865.1:p.Ser22674= | |
| XM_024453098.1:c.67941T>C (TTN) | XP_024308866.1:p.Ser22647= | |
| XM_024453099.1:c.49704T>C (TTN) | XP_024308867.1:p.Ser16568= | |
| XM_024453100.1:c.39558T>C (TTN) | XP_024308868.1:p.Ser13186= |