Linked Data
ClinVar Variation Id:
467293
dbSNP Id:
rs556286196
gnomAD v2:
2-179463553-G-A
gnomAD v3:
2-178598826-G-A
gnomAD v4:
2-178598826-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598826G>A , CM000664.2:g.178598826G>A | GRCh38 |
| NC_000002.11:g.179463553G>A , CM000664.1:g.179463553G>A | GRCh37 |
| NC_000002.10:g.179171798G>A | NCBI36 |
| NG_011618.3:g.236977C>T , LRG_391:g.236977C>T | |
| NG_051363.1:g.81000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49180C>T (TTN) | ENSP00000343764.6:p.Arg16394Trp | |
| ENST00000342175.11:c.30265C>T (TTN) | ENSP00000340554.6:p.Arg10089Trp | |
| ENST00000359218.10:c.30064C>T (TTN) | ENSP00000352154.5:p.Arg10022Trp | |
| ENST00000342175.10:c.30265C>T (TTN) | ENSP00000340554.6:p.Arg10089Trp | |
| ENST00000342992.10:c.49180C>T (TTN) | ENSP00000343764.6:p.Arg16394Trp | |
| ENST00000359218.9:c.30064C>T (TTN) | ENSP00000352154.5:p.Arg10022Trp | |
| ENST00000460472.6:c.29689C>T (TTN) | ENSP00000434586.1:p.Arg9897Trp | |
| ENST00000589042.5:c.56884C>T (TTN) MANE Select | ENSP00000467141.1:p.Arg18962Trp | |
| ENST00000591111.5:c.51961C>T (TTN) | ENSP00000465570.1:p.Arg17321Trp | |
| ENST00000615779.4:c.51961C>T (TTN) | ENSP00000483597.1:p.Arg17321Trp | |
| NM_001256850.1:c.51961C>T (TTN) | NP_001243779.1:p.Arg17321Trp | |
| NM_001267550.2:c.56884C>T (TTN) MANE Select | NP_001254479.2:p.Arg18962Trp | |
| NM_003319.4:c.29689C>T (TTN) | NP_003310.4:p.Arg9897Trp | |
| NM_133378.4:c.49180C>T (TTN) | NP_596869.4:p.Arg16394Trp | |
| NM_133432.3:c.30064C>T (TTN) | NP_597676.3:p.Arg10022Trp | |
| NM_133437.4:c.30265C>T (TTN) | NP_597681.4:p.Arg10089Trp | |
| NR_038271.1:n.682+1145G>A (TTN-AS1) | ||
| NR_038272.1:n.3568+153G>A (TTN-AS1) | ||
| XM_011511729.1:c.55981C>T (TTN) | XP_011510031.1:p.Arg18661Trp | |
| XM_011511730.1:c.29875C>T (TTN) | XP_011510032.1:p.Arg9959Trp | |
| XM_011511731.1:c.29734C>T (TTN) | XP_011510033.1:p.Arg9912Trp | |
| XM_017004819.1:c.55777C>T (TTN) | XP_016860308.1:p.Arg18593Trp | |
| XM_017004820.1:c.51175C>T (TTN) | XP_016860309.1:p.Arg17059Trp | |
| XM_017004821.1:c.51172C>T (TTN) | XP_016860310.1:p.Arg17058Trp | |
| XM_017004822.1:c.48214C>T (TTN) | XP_016860311.1:p.Arg16072Trp | |
| XM_017004823.1:c.29830C>T (TTN) | XP_016860312.1:p.Arg9944Trp | |
| XM_024453094.1:c.51325C>T (TTN) | XP_024308862.1:p.Arg17109Trp | |
| XM_024453095.1:c.51322C>T (TTN) | XP_024308863.1:p.Arg17108Trp | |
| XM_024453096.1:c.50755C>T (TTN) | XP_024308864.1:p.Arg16919Trp | |
| XM_024453097.1:c.48097C>T (TTN) | XP_024308865.1:p.Arg16033Trp | |
| XM_024453098.1:c.48016C>T (TTN) | XP_024308866.1:p.Arg16006Trp | |
| XM_024453099.1:c.29779C>T (TTN) | XP_024308867.1:p.Arg9927Trp | |
| XM_024453100.1:c.19633C>T (TTN) | XP_024308868.1:p.Arg6545Trp |