Linked Data
ClinVar Variation Id:
1530918
ClinVar RCV Id:
RCV002092142
dbSNP Id:
rs781781445
ExAC:
2:179434611 G / A
gnomAD v2:
2-179434611-G-A
gnomAD v4:
2-178569884-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178569884G>A , CM000664.2:g.178569884G>A | GRCh38 |
| NC_000002.11:g.179434611G>A , CM000664.1:g.179434611G>A | GRCh37 |
| NC_000002.10:g.179142857G>A | NCBI36 |
| NG_011618.3:g.265919C>T , LRG_391:g.265919C>T | |
| NG_051363.1:g.52058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.68544C>T (TTN) | ENSP00000343764.6:p.Asp22848= | |
| ENST00000342175.11:c.49629C>T (TTN) | ENSP00000340554.6:p.Asp16543= | |
| ENST00000359218.10:c.49428C>T (TTN) | ENSP00000352154.5:p.Asp16476= | |
| ENST00000342175.10:c.49629C>T (TTN) | ENSP00000340554.6:p.Asp16543= | |
| ENST00000342992.10:c.68544C>T (TTN) | ENSP00000343764.6:p.Asp22848= | |
| ENST00000359218.9:c.49428C>T (TTN) | ENSP00000352154.5:p.Asp16476= | |
| ENST00000460472.6:c.49053C>T (TTN) | ENSP00000434586.1:p.Asp16351= | |
| ENST00000589042.5:c.76248C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp25416= | |
| ENST00000591111.5:c.71325C>T (TTN) | ENSP00000465570.1:p.Asp23775= | |
| ENST00000615779.4:c.71325C>T (TTN) | ENSP00000483597.1:p.Asp23775= | |
| NM_001256850.1:c.71325C>T (TTN) | NP_001243779.1:p.Asp23775= | |
| NM_001267550.2:c.76248C>T (TTN) MANE Select | NP_001254479.2:p.Asp25416= | |
| NM_003319.4:c.49053C>T (TTN) | NP_003310.4:p.Asp16351= | |
| NM_133378.4:c.68544C>T (TTN) | NP_596869.4:p.Asp22848= | |
| NM_133432.3:c.49428C>T (TTN) | NP_597676.3:p.Asp16476= | |
| NM_133437.4:c.49629C>T (TTN) | NP_597681.4:p.Asp16543= | |
| NR_038271.1:n.447-1416G>A (TTN-AS1) | ||
| NR_038272.1:n.2044-12688G>A (TTN-AS1) | ||
| XM_011511729.1:c.75345C>T (TTN) | XP_011510031.1:p.Asp25115= | |
| XM_011511730.1:c.49239C>T (TTN) | XP_011510032.1:p.Asp16413= | |
| XM_011511731.1:c.49098C>T (TTN) | XP_011510033.1:p.Asp16366= | |
| XM_017004819.1:c.75141C>T (TTN) | XP_016860308.1:p.Asp25047= | |
| XM_017004820.1:c.70539C>T (TTN) | XP_016860309.1:p.Asp23513= | |
| XM_017004821.1:c.70536C>T (TTN) | XP_016860310.1:p.Asp23512= | |
| XM_017004822.1:c.67578C>T (TTN) | XP_016860311.1:p.Asp22526= | |
| XM_017004823.1:c.49194C>T (TTN) | XP_016860312.1:p.Asp16398= | |
| XM_024453094.1:c.70689C>T (TTN) | XP_024308862.1:p.Asp23563= | |
| XM_024453095.1:c.70686C>T (TTN) | XP_024308863.1:p.Asp23562= | |
| XM_024453096.1:c.70119C>T (TTN) | XP_024308864.1:p.Asp23373= | |
| XM_024453097.1:c.67461C>T (TTN) | XP_024308865.1:p.Asp22487= | |
| XM_024453098.1:c.67380C>T (TTN) | XP_024308866.1:p.Asp22460= | |
| XM_024453099.1:c.49143C>T (TTN) | XP_024308867.1:p.Asp16381= | |
| XM_024453100.1:c.38997C>T (TTN) | XP_024308868.1:p.Asp12999= |