Linked Data
ClinVar Variation Id:
534969
dbSNP Id:
rs770708534
ExAC:
2:179435043 G / A
gnomAD v2:
2-179435043-G-A
gnomAD v3:
2-178570316-G-A
gnomAD v4:
2-178570316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570316G>A , CM000664.2:g.178570316G>A | GRCh38 |
| NC_000002.11:g.179435043G>A , CM000664.1:g.179435043G>A | GRCh37 |
| NC_000002.10:g.179143289G>A | NCBI36 |
| NG_011618.3:g.265487C>T , LRG_391:g.265487C>T | |
| NG_051363.1:g.52490G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68112C>T (TTN) | ENSP00000343764.6:p.Gly22704= | |
| ENST00000342175.11:c.49197C>T (TTN) | ENSP00000340554.6:p.Gly16399= | |
| ENST00000359218.10:c.48996C>T (TTN) | ENSP00000352154.5:p.Gly16332= | |
| ENST00000342175.10:c.49197C>T (TTN) | ENSP00000340554.6:p.Gly16399= | |
| ENST00000342992.10:c.68112C>T (TTN) | ENSP00000343764.6:p.Gly22704= | |
| ENST00000359218.9:c.48996C>T (TTN) | ENSP00000352154.5:p.Gly16332= | |
| ENST00000460472.6:c.48621C>T (TTN) | ENSP00000434586.1:p.Gly16207= | |
| ENST00000589042.5:c.75816C>T (TTN) MANE Select | ENSP00000467141.1:p.Gly25272= | |
| ENST00000591111.5:c.70893C>T (TTN) | ENSP00000465570.1:p.Gly23631= | |
| ENST00000615779.4:c.70893C>T (TTN) | ENSP00000483597.1:p.Gly23631= | |
| NM_001256850.1:c.70893C>T (TTN) | NP_001243779.1:p.Gly23631= | |
| NM_001267550.2:c.75816C>T (TTN) MANE Select | NP_001254479.2:p.Gly25272= | |
| NM_003319.4:c.48621C>T (TTN) | NP_003310.4:p.Gly16207= | |
| NM_133378.4:c.68112C>T (TTN) | NP_596869.4:p.Gly22704= | |
| NM_133432.3:c.48996C>T (TTN) | NP_597676.3:p.Gly16332= | |
| NM_133437.4:c.49197C>T (TTN) | NP_597681.4:p.Gly16399= | |
| NR_038271.1:n.447-984G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12256G>A (TTN-AS1) | ||
| XM_011511729.1:c.74913C>T (TTN) | XP_011510031.1:p.Gly24971= | |
| XM_011511730.1:c.48807C>T (TTN) | XP_011510032.1:p.Gly16269= | |
| XM_011511731.1:c.48666C>T (TTN) | XP_011510033.1:p.Gly16222= | |
| XM_017004819.1:c.74709C>T (TTN) | XP_016860308.1:p.Gly24903= | |
| XM_017004820.1:c.70107C>T (TTN) | XP_016860309.1:p.Gly23369= | |
| XM_017004821.1:c.70104C>T (TTN) | XP_016860310.1:p.Gly23368= | |
| XM_017004822.1:c.67146C>T (TTN) | XP_016860311.1:p.Gly22382= | |
| XM_017004823.1:c.48762C>T (TTN) | XP_016860312.1:p.Gly16254= | |
| XM_024453094.1:c.70257C>T (TTN) | XP_024308862.1:p.Gly23419= | |
| XM_024453095.1:c.70254C>T (TTN) | XP_024308863.1:p.Gly23418= | |
| XM_024453096.1:c.69687C>T (TTN) | XP_024308864.1:p.Gly23229= | |
| XM_024453097.1:c.67029C>T (TTN) | XP_024308865.1:p.Gly22343= | |
| XM_024453098.1:c.66948C>T (TTN) | XP_024308866.1:p.Gly22316= | |
| XM_024453099.1:c.48711C>T (TTN) | XP_024308867.1:p.Gly16237= | |
| XM_024453100.1:c.38565C>T (TTN) | XP_024308868.1:p.Gly12855= |