Linked Data
ClinVar Variation Id:
202798
dbSNP Id:
rs373636513
ExAC:
2:179447736 C / T
gnomAD v2:
2-179447736-C-T
gnomAD v3:
2-178583009-C-T
gnomAD v4:
2-178583009-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178583009C>T , CM000664.2:g.178583009C>T | GRCh38 |
| NC_000002.11:g.179447736C>T , CM000664.1:g.179447736C>T | GRCh37 |
| NC_000002.10:g.179155982C>T | NCBI36 |
| NG_011618.3:g.252794G>A , LRG_391:g.252794G>A | |
| NG_051363.1:g.65183C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58090G>A (TTN) | ENSP00000343764.6:p.Gly19364Arg | |
| ENST00000342175.11:c.39175G>A (TTN) | ENSP00000340554.6:p.Gly13059Arg | |
| ENST00000359218.10:c.38974G>A (TTN) | ENSP00000352154.5:p.Gly12992Arg | |
| ENST00000342175.10:c.39175G>A (TTN) | ENSP00000340554.6:p.Gly13059Arg | |
| ENST00000342992.10:c.58090G>A (TTN) | ENSP00000343764.6:p.Gly19364Arg | |
| ENST00000359218.9:c.38974G>A (TTN) | ENSP00000352154.5:p.Gly12992Arg | |
| ENST00000460472.6:c.38599G>A (TTN) | ENSP00000434586.1:p.Gly12867Arg | |
| ENST00000589042.5:c.65794G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly21932Arg | |
| ENST00000591111.5:c.60871G>A (TTN) | ENSP00000465570.1:p.Gly20291Arg | |
| ENST00000615779.4:c.60871G>A (TTN) | ENSP00000483597.1:p.Gly20291Arg | |
| NM_001256850.1:c.60871G>A (TTN) | NP_001243779.1:p.Gly20291Arg | |
| NM_001267550.2:c.65794G>A (TTN) MANE Select | NP_001254479.2:p.Gly21932Arg | |
| NM_003319.4:c.38599G>A (TTN) | NP_003310.4:p.Gly12867Arg | |
| NM_133378.4:c.58090G>A (TTN) | NP_596869.4:p.Gly19364Arg | |
| NM_133432.3:c.38974G>A (TTN) | NP_597676.3:p.Gly12992Arg | |
| NM_133437.4:c.39175G>A (TTN) | NP_597681.4:p.Gly13059Arg | |
| NR_038271.1:n.596+11560C>T (TTN-AS1) | ||
| NR_038272.1:n.2197C>T (TTN-AS1) | ||
| XM_011511729.1:c.64891G>A (TTN) | XP_011510031.1:p.Gly21631Arg | |
| XM_011511730.1:c.38785G>A (TTN) | XP_011510032.1:p.Gly12929Arg | |
| XM_011511731.1:c.38644G>A (TTN) | XP_011510033.1:p.Gly12882Arg | |
| XM_017004819.1:c.64687G>A (TTN) | XP_016860308.1:p.Gly21563Arg | |
| XM_017004820.1:c.60085G>A (TTN) | XP_016860309.1:p.Gly20029Arg | |
| XM_017004821.1:c.60082G>A (TTN) | XP_016860310.1:p.Gly20028Arg | |
| XM_017004822.1:c.57124G>A (TTN) | XP_016860311.1:p.Gly19042Arg | |
| XM_017004823.1:c.38740G>A (TTN) | XP_016860312.1:p.Gly12914Arg | |
| XM_024453094.1:c.60235G>A (TTN) | XP_024308862.1:p.Gly20079Arg | |
| XM_024453095.1:c.60232G>A (TTN) | XP_024308863.1:p.Gly20078Arg | |
| XM_024453096.1:c.59665G>A (TTN) | XP_024308864.1:p.Gly19889Arg | |
| XM_024453097.1:c.57007G>A (TTN) | XP_024308865.1:p.Gly19003Arg | |
| XM_024453098.1:c.56926G>A (TTN) | XP_024308866.1:p.Gly18976Arg | |
| XM_024453099.1:c.38689G>A (TTN) | XP_024308867.1:p.Gly12897Arg | |
| XM_024453100.1:c.28543G>A (TTN) | XP_024308868.1:p.Gly9515Arg |