Linked Data
ClinVar Variation Id:
137814
dbSNP Id:
rs368423941
ExAC:
2:179408016 G / A
gnomAD v2:
2-179408016-G-A
gnomAD v3:
2-178543289-G-A
gnomAD v4:
2-178543289-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543289G>A , CM000664.2:g.178543289G>A | GRCh38 |
| NC_000002.11:g.179408016G>A , CM000664.1:g.179408016G>A | GRCh37 |
| NC_000002.10:g.179116262G>A | NCBI36 |
| NG_011618.3:g.292514C>T , LRG_391:g.292514C>T | |
| NG_051363.1:g.25463G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.88980C>T (TTN) | ENSP00000343764.6:p.Tyr29660= | |
| ENST00000342175.11:c.70065C>T (TTN) | ENSP00000340554.6:p.Tyr23355= | |
| ENST00000359218.10:c.69864C>T (TTN) | ENSP00000352154.5:p.Tyr23288= | |
| ENST00000342175.10:c.70065C>T (TTN) | ENSP00000340554.6:p.Tyr23355= | |
| ENST00000342992.10:c.88980C>T (TTN) | ENSP00000343764.6:p.Tyr29660= | |
| ENST00000359218.9:c.69864C>T (TTN) | ENSP00000352154.5:p.Tyr23288= | |
| ENST00000460472.6:c.69489C>T (TTN) | ENSP00000434586.1:p.Tyr23163= | |
| ENST00000589042.5:c.96684C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr32228= | |
| ENST00000591111.5:c.91761C>T (TTN) | ENSP00000465570.1:p.Tyr30587= | |
| ENST00000615779.4:c.91761C>T (TTN) | ENSP00000483597.1:p.Tyr30587= | |
| NM_001256850.1:c.91761C>T (TTN) | NP_001243779.1:p.Tyr30587= | |
| NM_001267550.2:c.96684C>T (TTN) MANE Select | NP_001254479.2:p.Tyr32228= | |
| NM_003319.4:c.69489C>T (TTN) | NP_003310.4:p.Tyr23163= | |
| NM_133378.4:c.88980C>T (TTN) | NP_596869.4:p.Tyr29660= | |
| NM_133432.3:c.69864C>T (TTN) | NP_597676.3:p.Tyr23288= | |
| NM_133437.4:c.70065C>T (TTN) | NP_597681.4:p.Tyr23355= | |
| NR_038271.1:n.446+19653G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+928G>A (TTN-AS1) | ||
| XM_011511729.1:c.95781C>T (TTN) | XP_011510031.1:p.Tyr31927= | |
| XM_011511730.1:c.69675C>T (TTN) | XP_011510032.1:p.Tyr23225= | |
| XM_011511731.1:c.69534C>T (TTN) | XP_011510033.1:p.Tyr23178= | |
| XM_017004819.1:c.95577C>T (TTN) | XP_016860308.1:p.Tyr31859= | |
| XM_017004820.1:c.90975C>T (TTN) | XP_016860309.1:p.Tyr30325= | |
| XM_017004821.1:c.90972C>T (TTN) | XP_016860310.1:p.Tyr30324= | |
| XM_017004822.1:c.88014C>T (TTN) | XP_016860311.1:p.Tyr29338= | |
| XM_017004823.1:c.69630C>T (TTN) | XP_016860312.1:p.Tyr23210= | |
| XM_024453094.1:c.91125C>T (TTN) | XP_024308862.1:p.Tyr30375= | |
| XM_024453095.1:c.91122C>T (TTN) | XP_024308863.1:p.Tyr30374= | |
| XM_024453096.1:c.90555C>T (TTN) | XP_024308864.1:p.Tyr30185= | |
| XM_024453097.1:c.87897C>T (TTN) | XP_024308865.1:p.Tyr29299= | |
| XM_024453098.1:c.87816C>T (TTN) | XP_024308866.1:p.Tyr29272= | |
| XM_024453099.1:c.69579C>T (TTN) | XP_024308867.1:p.Tyr23193= | |
| XM_024453100.1:c.59433C>T (TTN) | XP_024308868.1:p.Tyr19811= |