Linked Data
ClinVar Variation Id:
467349
dbSNP Id:
rs373867080
ExAC:
2:179453885 T / C
gnomAD v2:
2-179453885-T-C
gnomAD v3:
2-178589158-T-C
gnomAD v4:
2-178589158-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589158T>C , CM000664.2:g.178589158T>C | GRCh38 |
| NC_000002.11:g.179453885T>C , CM000664.1:g.179453885T>C | GRCh37 |
| NC_000002.10:g.179162131T>C | NCBI36 |
| NG_011618.3:g.246645A>G , LRG_391:g.246645A>G | |
| NG_051363.1:g.71332T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54863A>G (TTN) | ENSP00000343764.6:p.Tyr18288Cys | |
| ENST00000342175.11:c.35948A>G (TTN) | ENSP00000340554.6:p.Tyr11983Cys | |
| ENST00000359218.10:c.35747A>G (TTN) | ENSP00000352154.5:p.Tyr11916Cys | |
| ENST00000342175.10:c.35948A>G (TTN) | ENSP00000340554.6:p.Tyr11983Cys | |
| ENST00000342992.10:c.54863A>G (TTN) | ENSP00000343764.6:p.Tyr18288Cys | |
| ENST00000359218.9:c.35747A>G (TTN) | ENSP00000352154.5:p.Tyr11916Cys | |
| ENST00000460472.6:c.35372A>G (TTN) | ENSP00000434586.1:p.Tyr11791Cys | |
| ENST00000589042.5:c.62567A>G (TTN) MANE Select | ENSP00000467141.1:p.Tyr20856Cys | |
| ENST00000591111.5:c.57644A>G (TTN) | ENSP00000465570.1:p.Tyr19215Cys | |
| ENST00000615779.4:c.57644A>G (TTN) | ENSP00000483597.1:p.Tyr19215Cys | |
| NM_001256850.1:c.57644A>G (TTN) | NP_001243779.1:p.Tyr19215Cys | |
| NM_001267550.2:c.62567A>G (TTN) MANE Select | NP_001254479.2:p.Tyr20856Cys | |
| NM_003319.4:c.35372A>G (TTN) | NP_003310.4:p.Tyr11791Cys | |
| NM_133378.4:c.54863A>G (TTN) | NP_596869.4:p.Tyr18288Cys | |
| NM_133432.3:c.35747A>G (TTN) | NP_597676.3:p.Tyr11916Cys | |
| NM_133437.4:c.35948A>G (TTN) | NP_597681.4:p.Tyr11983Cys | |
| NR_038271.1:n.597-8438T>C (TTN-AS1) | ||
| NR_038272.1:n.3189-1981T>C (TTN-AS1) | ||
| XM_011511729.1:c.61664A>G (TTN) | XP_011510031.1:p.Tyr20555Cys | |
| XM_011511730.1:c.35558A>G (TTN) | XP_011510032.1:p.Tyr11853Cys | |
| XM_011511731.1:c.35417A>G (TTN) | XP_011510033.1:p.Tyr11806Cys | |
| XM_017004819.1:c.61460A>G (TTN) | XP_016860308.1:p.Tyr20487Cys | |
| XM_017004820.1:c.56858A>G (TTN) | XP_016860309.1:p.Tyr18953Cys | |
| XM_017004821.1:c.56855A>G (TTN) | XP_016860310.1:p.Tyr18952Cys | |
| XM_017004822.1:c.53897A>G (TTN) | XP_016860311.1:p.Tyr17966Cys | |
| XM_017004823.1:c.35513A>G (TTN) | XP_016860312.1:p.Tyr11838Cys | |
| XM_024453094.1:c.57008A>G (TTN) | XP_024308862.1:p.Tyr19003Cys | |
| XM_024453095.1:c.57005A>G (TTN) | XP_024308863.1:p.Tyr19002Cys | |
| XM_024453096.1:c.56438A>G (TTN) | XP_024308864.1:p.Tyr18813Cys | |
| XM_024453097.1:c.53780A>G (TTN) | XP_024308865.1:p.Tyr17927Cys | |
| XM_024453098.1:c.53699A>G (TTN) | XP_024308866.1:p.Tyr17900Cys | |
| XM_024453099.1:c.35462A>G (TTN) | XP_024308867.1:p.Tyr11821Cys | |
| XM_024453100.1:c.25316A>G (TTN) | XP_024308868.1:p.Tyr8439Cys |