Linked Data
ClinVar Variation Id:
238863
dbSNP Id:
rs748326514
ExAC:
2:179417892 A / G
gnomAD v2:
2-179417892-A-G
gnomAD v4:
2-178553165-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178553165A>G , CM000664.2:g.178553165A>G | GRCh38 |
| NC_000002.11:g.179417892A>G , CM000664.1:g.179417892A>G | GRCh37 |
| NC_000002.10:g.179126138A>G | NCBI36 |
| NG_011618.3:g.282638T>C , LRG_391:g.282638T>C | |
| NG_051363.1:g.35339A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82031T>C (TTN) | ENSP00000343764.6:p.Leu27344Pro | |
| ENST00000342175.11:c.63116T>C (TTN) | ENSP00000340554.6:p.Leu21039Pro | |
| ENST00000359218.10:c.62915T>C (TTN) | ENSP00000352154.5:p.Leu20972Pro | |
| ENST00000342175.10:c.63116T>C (TTN) | ENSP00000340554.6:p.Leu21039Pro | |
| ENST00000342992.10:c.82031T>C (TTN) | ENSP00000343764.6:p.Leu27344Pro | |
| ENST00000359218.9:c.62915T>C (TTN) | ENSP00000352154.5:p.Leu20972Pro | |
| ENST00000460472.6:c.62540T>C (TTN) | ENSP00000434586.1:p.Leu20847Pro | |
| ENST00000589042.5:c.89735T>C (TTN) MANE Select | ENSP00000467141.1:p.Leu29912Pro | |
| ENST00000591111.5:c.84812T>C (TTN) | ENSP00000465570.1:p.Leu28271Pro | |
| ENST00000615779.4:c.84812T>C (TTN) | ENSP00000483597.1:p.Leu28271Pro | |
| NM_001256850.1:c.84812T>C (TTN) | NP_001243779.1:p.Leu28271Pro | |
| NM_001267550.2:c.89735T>C (TTN) MANE Select | NP_001254479.2:p.Leu29912Pro | |
| NM_003319.4:c.62540T>C (TTN) | NP_003310.4:p.Leu20847Pro | |
| NM_133378.4:c.82031T>C (TTN) | NP_596869.4:p.Leu27344Pro | |
| NM_133432.3:c.62915T>C (TTN) | NP_597676.3:p.Leu20972Pro | |
| NM_133437.4:c.63116T>C (TTN) | NP_597681.4:p.Leu21039Pro | |
| NR_038271.1:n.447-18135A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+10804A>G (TTN-AS1) | ||
| XM_011511729.1:c.88832T>C (TTN) | XP_011510031.1:p.Leu29611Pro | |
| XM_011511730.1:c.62726T>C (TTN) | XP_011510032.1:p.Leu20909Pro | |
| XM_011511731.1:c.62585T>C (TTN) | XP_011510033.1:p.Leu20862Pro | |
| XM_017004819.1:c.88628T>C (TTN) | XP_016860308.1:p.Leu29543Pro | |
| XM_017004820.1:c.84026T>C (TTN) | XP_016860309.1:p.Leu28009Pro | |
| XM_017004821.1:c.84023T>C (TTN) | XP_016860310.1:p.Leu28008Pro | |
| XM_017004822.1:c.81065T>C (TTN) | XP_016860311.1:p.Leu27022Pro | |
| XM_017004823.1:c.62681T>C (TTN) | XP_016860312.1:p.Leu20894Pro | |
| XM_024453094.1:c.84176T>C (TTN) | XP_024308862.1:p.Leu28059Pro | |
| XM_024453095.1:c.84173T>C (TTN) | XP_024308863.1:p.Leu28058Pro | |
| XM_024453096.1:c.83606T>C (TTN) | XP_024308864.1:p.Leu27869Pro | |
| XM_024453097.1:c.80948T>C (TTN) | XP_024308865.1:p.Leu26983Pro | |
| XM_024453098.1:c.80867T>C (TTN) | XP_024308866.1:p.Leu26956Pro | |
| XM_024453099.1:c.62630T>C (TTN) | XP_024308867.1:p.Leu20877Pro | |
| XM_024453100.1:c.52484T>C (TTN) | XP_024308868.1:p.Leu17495Pro |