Linked Data
ClinVar Variation Id:
509241
dbSNP Id:
rs748836778
ExAC:
2:179476870 G / A
gnomAD v2:
2-179476870-G-A
gnomAD v3:
2-178612143-G-A
gnomAD v4:
2-178612143-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612143G>A , CM000664.2:g.178612143G>A | GRCh38 |
| NC_000002.11:g.179476870G>A , CM000664.1:g.179476870G>A | GRCh37 |
| NC_000002.10:g.179185115G>A | NCBI36 |
| NG_011618.3:g.223660C>T , LRG_391:g.223660C>T | |
| NG_051363.1:g.94317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42564C>T (TTN) | ENSP00000343764.6:p.Tyr14188= | |
| ENST00000342175.11:c.23649C>T (TTN) | ENSP00000340554.6:p.Tyr7883= | |
| ENST00000359218.10:c.23448C>T (TTN) | ENSP00000352154.5:p.Tyr7816= | |
| ENST00000342175.10:c.23649C>T (TTN) | ENSP00000340554.6:p.Tyr7883= | |
| ENST00000342992.10:c.42564C>T (TTN) | ENSP00000343764.6:p.Tyr14188= | |
| ENST00000359218.9:c.23448C>T (TTN) | ENSP00000352154.5:p.Tyr7816= | |
| ENST00000460472.6:c.23073C>T (TTN) | ENSP00000434586.1:p.Tyr7691= | |
| ENST00000589042.5:c.50268C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr16756= | |
| ENST00000591111.5:c.45345C>T (TTN) | ENSP00000465570.1:p.Tyr15115= | |
| ENST00000615779.4:c.45345C>T (TTN) | ENSP00000483597.1:p.Tyr15115= | |
| NM_001256850.1:c.45345C>T (TTN) | NP_001243779.1:p.Tyr15115= | |
| NM_001267550.2:c.50268C>T (TTN) MANE Select | NP_001254479.2:p.Tyr16756= | |
| NM_003319.4:c.23073C>T (TTN) | NP_003310.4:p.Tyr7691= | |
| NM_133378.4:c.42564C>T (TTN) | NP_596869.4:p.Tyr14188= | |
| NM_133432.3:c.23448C>T (TTN) | NP_597676.3:p.Tyr7816= | |
| NM_133437.4:c.23649C>T (TTN) | NP_597681.4:p.Tyr7883= | |
| NR_038271.1:n.783-1892G>A (TTN-AS1) | ||
| XM_011511729.1:c.49365C>T (TTN) | XP_011510031.1:p.Tyr16455= | |
| XM_011511730.1:c.23259C>T (TTN) | XP_011510032.1:p.Tyr7753= | |
| XM_011511731.1:c.23118C>T (TTN) | XP_011510033.1:p.Tyr7706= | |
| XM_017004819.1:c.49161C>T (TTN) | XP_016860308.1:p.Tyr16387= | |
| XM_017004820.1:c.44559C>T (TTN) | XP_016860309.1:p.Tyr14853= | |
| XM_017004821.1:c.44556C>T (TTN) | XP_016860310.1:p.Tyr14852= | |
| XM_017004822.1:c.41598C>T (TTN) | XP_016860311.1:p.Tyr13866= | |
| XM_017004823.1:c.23214C>T (TTN) | XP_016860312.1:p.Tyr7738= | |
| XM_024453094.1:c.44709C>T (TTN) | XP_024308862.1:p.Tyr14903= | |
| XM_024453095.1:c.44706C>T (TTN) | XP_024308863.1:p.Tyr14902= | |
| XM_024453096.1:c.44139C>T (TTN) | XP_024308864.1:p.Tyr14713= | |
| XM_024453097.1:c.41481C>T (TTN) | XP_024308865.1:p.Tyr13827= | |
| XM_024453098.1:c.41400C>T (TTN) | XP_024308866.1:p.Tyr13800= | |
| XM_024453099.1:c.23163C>T (TTN) | XP_024308867.1:p.Tyr7721= | |
| XM_024453100.1:c.13017C>T (TTN) | XP_024308868.1:p.Tyr4339= |