Linked Data
ClinVar Variation Id:
47668
dbSNP Id:
rs181679744
ExAC:
2:179396978 G / A
gnomAD v2:
2-179396978-G-A
gnomAD v3:
2-178532251-G-A
gnomAD v4:
2-178532251-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532251G>A , CM000664.2:g.178532251G>A | GRCh38 |
| NC_000002.11:g.179396978G>A , CM000664.1:g.179396978G>A | GRCh37 |
| NC_000002.10:g.179105224G>A | NCBI36 |
| NG_011618.3:g.303552C>T , LRG_391:g.303552C>T | |
| NG_051363.1:g.14425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96660C>T (TTN) | ENSP00000343764.6:p.Ser32220= | |
| ENST00000342175.11:c.77745C>T (TTN) | ENSP00000340554.6:p.Ser25915= | |
| ENST00000359218.10:c.77544C>T (TTN) | ENSP00000352154.5:p.Ser25848= | |
| ENST00000342175.10:c.77745C>T (TTN) | ENSP00000340554.6:p.Ser25915= | |
| ENST00000342992.10:c.96660C>T (TTN) | ENSP00000343764.6:p.Ser32220= | |
| ENST00000359218.9:c.77544C>T (TTN) | ENSP00000352154.5:p.Ser25848= | |
| ENST00000460472.6:c.77169C>T (TTN) | ENSP00000434586.1:p.Ser25723= | |
| ENST00000589042.5:c.104364C>T (TTN) MANE Select | ENSP00000467141.1:p.Ser34788= | |
| ENST00000591111.5:c.99441C>T (TTN) | ENSP00000465570.1:p.Ser33147= | |
| ENST00000615779.4:c.99441C>T (TTN) | ENSP00000483597.1:p.Ser33147= | |
| NM_001256850.1:c.99441C>T (TTN) | NP_001243779.1:p.Ser33147= | |
| NM_001267550.2:c.104364C>T (TTN) MANE Select | NP_001254479.2:p.Ser34788= | |
| NM_003319.4:c.77169C>T (TTN) | NP_003310.4:p.Ser25723= | |
| NM_133378.4:c.96660C>T (TTN) | NP_596869.4:p.Ser32220= | |
| NM_133432.3:c.77544C>T (TTN) | NP_597676.3:p.Ser25848= | |
| NM_133437.4:c.77745C>T (TTN) | NP_597681.4:p.Ser25915= | |
| NR_038271.1:n.446+8615G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3481G>A (TTN-AS1) | ||
| XM_011511729.1:c.103461C>T (TTN) | XP_011510031.1:p.Ser34487= | |
| XM_011511730.1:c.77355C>T (TTN) | XP_011510032.1:p.Ser25785= | |
| XM_011511731.1:c.77214C>T (TTN) | XP_011510033.1:p.Ser25738= | |
| XM_017004819.1:c.103257C>T (TTN) | XP_016860308.1:p.Ser34419= | |
| XM_017004820.1:c.98655C>T (TTN) | XP_016860309.1:p.Ser32885= | |
| XM_017004821.1:c.98652C>T (TTN) | XP_016860310.1:p.Ser32884= | |
| XM_017004822.1:c.95694C>T (TTN) | XP_016860311.1:p.Ser31898= | |
| XM_017004823.1:c.77310C>T (TTN) | XP_016860312.1:p.Ser25770= | |
| XM_024453094.1:c.98805C>T (TTN) | XP_024308862.1:p.Ser32935= | |
| XM_024453095.1:c.98802C>T (TTN) | XP_024308863.1:p.Ser32934= | |
| XM_024453096.1:c.98235C>T (TTN) | XP_024308864.1:p.Ser32745= | |
| XM_024453097.1:c.95577C>T (TTN) | XP_024308865.1:p.Ser31859= | |
| XM_024453098.1:c.95496C>T (TTN) | XP_024308866.1:p.Ser31832= | |
| XM_024453099.1:c.77259C>T (TTN) | XP_024308867.1:p.Ser25753= | |
| XM_024453100.1:c.67113C>T (TTN) | XP_024308868.1:p.Ser22371= |