Linked Data
ClinVar Variation Id:
178814
dbSNP Id:
rs373099440
ExAC:
2:179414059 C / G
gnomAD v2:
2-179414059-C-G
gnomAD v3:
2-178549332-C-G
gnomAD v4:
2-178549332-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178549332C>G , CM000664.2:g.178549332C>G | GRCh38 |
| NC_000002.11:g.179414059C>G , CM000664.1:g.179414059C>G | GRCh37 |
| NC_000002.10:g.179122305C>G | NCBI36 |
| NG_011618.3:g.286471G>C , LRG_391:g.286471G>C | |
| NG_051363.1:g.31506C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84590G>C (TTN) | ENSP00000343764.6:p.Arg28197Thr | |
| ENST00000342175.11:c.65675G>C (TTN) | ENSP00000340554.6:p.Arg21892Thr | |
| ENST00000359218.10:c.65474G>C (TTN) | ENSP00000352154.5:p.Arg21825Thr | |
| ENST00000342175.10:c.65675G>C (TTN) | ENSP00000340554.6:p.Arg21892Thr | |
| ENST00000342992.10:c.84590G>C (TTN) | ENSP00000343764.6:p.Arg28197Thr | |
| ENST00000359218.9:c.65474G>C (TTN) | ENSP00000352154.5:p.Arg21825Thr | |
| ENST00000460472.6:c.65099G>C (TTN) | ENSP00000434586.1:p.Arg21700Thr | |
| ENST00000589042.5:c.92294G>C (TTN) MANE Select | ENSP00000467141.1:p.Arg30765Thr | |
| ENST00000591111.5:c.87371G>C (TTN) | ENSP00000465570.1:p.Arg29124Thr | |
| ENST00000615779.4:c.87371G>C (TTN) | ENSP00000483597.1:p.Arg29124Thr | |
| NM_001256850.1:c.87371G>C (TTN) | NP_001243779.1:p.Arg29124Thr | |
| NM_001267550.2:c.92294G>C (TTN) MANE Select | NP_001254479.2:p.Arg30765Thr | |
| NM_003319.4:c.65099G>C (TTN) | NP_003310.4:p.Arg21700Thr | |
| NM_133378.4:c.84590G>C (TTN) | NP_596869.4:p.Arg28197Thr | |
| NM_133432.3:c.65474G>C (TTN) | NP_597676.3:p.Arg21825Thr | |
| NM_133437.4:c.65675G>C (TTN) | NP_597681.4:p.Arg21892Thr | |
| NR_038271.1:n.447-21968C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+6971C>G (TTN-AS1) | ||
| XM_011511729.1:c.91391G>C (TTN) | XP_011510031.1:p.Arg30464Thr | |
| XM_011511730.1:c.65285G>C (TTN) | XP_011510032.1:p.Arg21762Thr | |
| XM_011511731.1:c.65144G>C (TTN) | XP_011510033.1:p.Arg21715Thr | |
| XM_017004819.1:c.91187G>C (TTN) | XP_016860308.1:p.Arg30396Thr | |
| XM_017004820.1:c.86585G>C (TTN) | XP_016860309.1:p.Arg28862Thr | |
| XM_017004821.1:c.86582G>C (TTN) | XP_016860310.1:p.Arg28861Thr | |
| XM_017004822.1:c.83624G>C (TTN) | XP_016860311.1:p.Arg27875Thr | |
| XM_017004823.1:c.65240G>C (TTN) | XP_016860312.1:p.Arg21747Thr | |
| XM_024453094.1:c.86735G>C (TTN) | XP_024308862.1:p.Arg28912Thr | |
| XM_024453095.1:c.86732G>C (TTN) | XP_024308863.1:p.Arg28911Thr | |
| XM_024453096.1:c.86165G>C (TTN) | XP_024308864.1:p.Arg28722Thr | |
| XM_024453097.1:c.83507G>C (TTN) | XP_024308865.1:p.Arg27836Thr | |
| XM_024453098.1:c.83426G>C (TTN) | XP_024308866.1:p.Arg27809Thr | |
| XM_024453099.1:c.65189G>C (TTN) | XP_024308867.1:p.Arg21730Thr | |
| XM_024453100.1:c.55043G>C (TTN) | XP_024308868.1:p.Arg18348Thr |