Linked Data
ClinVar Variation Id:
137819
dbSNP Id:
rs548677252
ExAC:
2:179396885 G / A
gnomAD v2:
2-179396885-G-A
gnomAD v3:
2-178532158-G-A
gnomAD v4:
2-178532158-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532158G>A , CM000664.2:g.178532158G>A | GRCh38 |
| NC_000002.11:g.179396885G>A , CM000664.1:g.179396885G>A | GRCh37 |
| NC_000002.10:g.179105131G>A | NCBI36 |
| NG_011618.3:g.303645C>T , LRG_391:g.303645C>T | |
| NG_051363.1:g.14332G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96753C>T (TTN) | ENSP00000343764.6:p.Tyr32251= | |
| ENST00000342175.11:c.77838C>T (TTN) | ENSP00000340554.6:p.Tyr25946= | |
| ENST00000359218.10:c.77637C>T (TTN) | ENSP00000352154.5:p.Tyr25879= | |
| ENST00000342175.10:c.77838C>T (TTN) | ENSP00000340554.6:p.Tyr25946= | |
| ENST00000342992.10:c.96753C>T (TTN) | ENSP00000343764.6:p.Tyr32251= | |
| ENST00000359218.9:c.77637C>T (TTN) | ENSP00000352154.5:p.Tyr25879= | |
| ENST00000460472.6:c.77262C>T (TTN) | ENSP00000434586.1:p.Tyr25754= | |
| ENST00000589042.5:c.104457C>T (TTN) MANE Select | ENSP00000467141.1:p.Tyr34819= | |
| ENST00000591111.5:c.99534C>T (TTN) | ENSP00000465570.1:p.Tyr33178= | |
| ENST00000615779.4:c.99534C>T (TTN) | ENSP00000483597.1:p.Tyr33178= | |
| NM_001256850.1:c.99534C>T (TTN) | NP_001243779.1:p.Tyr33178= | |
| NM_001267550.2:c.104457C>T (TTN) MANE Select | NP_001254479.2:p.Tyr34819= | |
| NM_003319.4:c.77262C>T (TTN) | NP_003310.4:p.Tyr25754= | |
| NM_133378.4:c.96753C>T (TTN) | NP_596869.4:p.Tyr32251= | |
| NM_133432.3:c.77637C>T (TTN) | NP_597676.3:p.Tyr25879= | |
| NM_133437.4:c.77838C>T (TTN) | NP_597681.4:p.Tyr25946= | |
| NR_038271.1:n.446+8522G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3574G>A (TTN-AS1) | ||
| XM_011511729.1:c.103554C>T (TTN) | XP_011510031.1:p.Tyr34518= | |
| XM_011511730.1:c.77448C>T (TTN) | XP_011510032.1:p.Tyr25816= | |
| XM_011511731.1:c.77307C>T (TTN) | XP_011510033.1:p.Tyr25769= | |
| XM_017004819.1:c.103350C>T (TTN) | XP_016860308.1:p.Tyr34450= | |
| XM_017004820.1:c.98748C>T (TTN) | XP_016860309.1:p.Tyr32916= | |
| XM_017004821.1:c.98745C>T (TTN) | XP_016860310.1:p.Tyr32915= | |
| XM_017004822.1:c.95787C>T (TTN) | XP_016860311.1:p.Tyr31929= | |
| XM_017004823.1:c.77403C>T (TTN) | XP_016860312.1:p.Tyr25801= | |
| XM_024453094.1:c.98898C>T (TTN) | XP_024308862.1:p.Tyr32966= | |
| XM_024453095.1:c.98895C>T (TTN) | XP_024308863.1:p.Tyr32965= | |
| XM_024453096.1:c.98328C>T (TTN) | XP_024308864.1:p.Tyr32776= | |
| XM_024453097.1:c.95670C>T (TTN) | XP_024308865.1:p.Tyr31890= | |
| XM_024453098.1:c.95589C>T (TTN) | XP_024308866.1:p.Tyr31863= | |
| XM_024453099.1:c.77352C>T (TTN) | XP_024308867.1:p.Tyr25784= | |
| XM_024453100.1:c.67206C>T (TTN) | XP_024308868.1:p.Tyr22402= |