Linked Data
ClinVar Variation Id:
500739
dbSNP Id:
rs558347312
ExAC:
2:179411565 T / C
gnomAD v2:
2-179411565-T-C
gnomAD v3:
2-178546838-T-C
gnomAD v4:
2-178546838-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546838T>C , CM000664.2:g.178546838T>C | GRCh38 |
| NC_000002.11:g.179411565T>C , CM000664.1:g.179411565T>C | GRCh37 |
| NC_000002.10:g.179119811T>C | NCBI36 |
| NG_011618.3:g.288965A>G , LRG_391:g.288965A>G | |
| NG_051363.1:g.29012T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.86886A>G (TTN) | ENSP00000343764.6:p.Pro28962= | |
| ENST00000342175.11:c.67971A>G (TTN) | ENSP00000340554.6:p.Pro22657= | |
| ENST00000359218.10:c.67770A>G (TTN) | ENSP00000352154.5:p.Pro22590= | |
| ENST00000342175.10:c.67971A>G (TTN) | ENSP00000340554.6:p.Pro22657= | |
| ENST00000342992.10:c.86886A>G (TTN) | ENSP00000343764.6:p.Pro28962= | |
| ENST00000359218.9:c.67770A>G (TTN) | ENSP00000352154.5:p.Pro22590= | |
| ENST00000460472.6:c.67395A>G (TTN) | ENSP00000434586.1:p.Pro22465= | |
| ENST00000589042.5:c.94590A>G (TTN) MANE Select | ENSP00000467141.1:p.Pro31530= | |
| ENST00000591111.5:c.89667A>G (TTN) | ENSP00000465570.1:p.Pro29889= | |
| ENST00000615779.4:c.89667A>G (TTN) | ENSP00000483597.1:p.Pro29889= | |
| NM_001256850.1:c.89667A>G (TTN) | NP_001243779.1:p.Pro29889= | |
| NM_001267550.2:c.94590A>G (TTN) MANE Select | NP_001254479.2:p.Pro31530= | |
| NM_003319.4:c.67395A>G (TTN) | NP_003310.4:p.Pro22465= | |
| NM_133378.4:c.86886A>G (TTN) | NP_596869.4:p.Pro28962= | |
| NM_133432.3:c.67770A>G (TTN) | NP_597676.3:p.Pro22590= | |
| NM_133437.4:c.67971A>G (TTN) | NP_597681.4:p.Pro22657= | |
| NR_038271.1:n.446+23202T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+4477T>C (TTN-AS1) | ||
| XM_011511729.1:c.93687A>G (TTN) | XP_011510031.1:p.Pro31229= | |
| XM_011511730.1:c.67581A>G (TTN) | XP_011510032.1:p.Pro22527= | |
| XM_011511731.1:c.67440A>G (TTN) | XP_011510033.1:p.Pro22480= | |
| XM_017004819.1:c.93483A>G (TTN) | XP_016860308.1:p.Pro31161= | |
| XM_017004820.1:c.88881A>G (TTN) | XP_016860309.1:p.Pro29627= | |
| XM_017004821.1:c.88878A>G (TTN) | XP_016860310.1:p.Pro29626= | |
| XM_017004822.1:c.85920A>G (TTN) | XP_016860311.1:p.Pro28640= | |
| XM_017004823.1:c.67536A>G (TTN) | XP_016860312.1:p.Pro22512= | |
| XM_024453094.1:c.89031A>G (TTN) | XP_024308862.1:p.Pro29677= | |
| XM_024453095.1:c.89028A>G (TTN) | XP_024308863.1:p.Pro29676= | |
| XM_024453096.1:c.88461A>G (TTN) | XP_024308864.1:p.Pro29487= | |
| XM_024453097.1:c.85803A>G (TTN) | XP_024308865.1:p.Pro28601= | |
| XM_024453098.1:c.85722A>G (TTN) | XP_024308866.1:p.Pro28574= | |
| XM_024453099.1:c.67485A>G (TTN) | XP_024308867.1:p.Pro22495= | |
| XM_024453100.1:c.57339A>G (TTN) | XP_024308868.1:p.Pro19113= |