Linked Data
ClinVar Variation Id:
228156
dbSNP Id:
rs773001228
ExAC:
2:179424774 G / A
gnomAD v2:
2-179424774-G-A
gnomAD v3:
2-178560047-G-A
gnomAD v4:
2-178560047-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178560047G>A , CM000664.2:g.178560047G>A | GRCh38 |
| NC_000002.11:g.179424774G>A , CM000664.1:g.179424774G>A | GRCh37 |
| NC_000002.10:g.179133020G>A | NCBI36 |
| NG_011618.3:g.275756C>T , LRG_391:g.275756C>T | |
| NG_051363.1:g.42221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.78381C>T (TTN) | ENSP00000343764.6:p.Asp26127= | |
| ENST00000342175.11:c.59466C>T (TTN) | ENSP00000340554.6:p.Asp19822= | |
| ENST00000359218.10:c.59265C>T (TTN) | ENSP00000352154.5:p.Asp19755= | |
| ENST00000342175.10:c.59466C>T (TTN) | ENSP00000340554.6:p.Asp19822= | |
| ENST00000342992.10:c.78381C>T (TTN) | ENSP00000343764.6:p.Asp26127= | |
| ENST00000359218.9:c.59265C>T (TTN) | ENSP00000352154.5:p.Asp19755= | |
| ENST00000460472.6:c.58890C>T (TTN) | ENSP00000434586.1:p.Asp19630= | |
| ENST00000589042.5:c.86085C>T (TTN) MANE Select | ENSP00000467141.1:p.Asp28695= | |
| ENST00000591111.5:c.81162C>T (TTN) | ENSP00000465570.1:p.Asp27054= | |
| ENST00000615779.4:c.81162C>T (TTN) | ENSP00000483597.1:p.Asp27054= | |
| NM_001256850.1:c.81162C>T (TTN) | NP_001243779.1:p.Asp27054= | |
| NM_001267550.2:c.86085C>T (TTN) MANE Select | NP_001254479.2:p.Asp28695= | |
| NM_003319.4:c.58890C>T (TTN) | NP_003310.4:p.Asp19630= | |
| NM_133378.4:c.78381C>T (TTN) | NP_596869.4:p.Asp26127= | |
| NM_133432.3:c.59265C>T (TTN) | NP_597676.3:p.Asp19755= | |
| NM_133437.4:c.59466C>T (TTN) | NP_597681.4:p.Asp19822= | |
| NR_038271.1:n.447-11253G>A (TTN-AS1) | ||
| NR_038272.1:n.2043+17686G>A (TTN-AS1) | ||
| XM_011511729.1:c.85182C>T (TTN) | XP_011510031.1:p.Asp28394= | |
| XM_011511730.1:c.59076C>T (TTN) | XP_011510032.1:p.Asp19692= | |
| XM_011511731.1:c.58935C>T (TTN) | XP_011510033.1:p.Asp19645= | |
| XM_017004819.1:c.84978C>T (TTN) | XP_016860308.1:p.Asp28326= | |
| XM_017004820.1:c.80376C>T (TTN) | XP_016860309.1:p.Asp26792= | |
| XM_017004821.1:c.80373C>T (TTN) | XP_016860310.1:p.Asp26791= | |
| XM_017004822.1:c.77415C>T (TTN) | XP_016860311.1:p.Asp25805= | |
| XM_017004823.1:c.59031C>T (TTN) | XP_016860312.1:p.Asp19677= | |
| XM_024453094.1:c.80526C>T (TTN) | XP_024308862.1:p.Asp26842= | |
| XM_024453095.1:c.80523C>T (TTN) | XP_024308863.1:p.Asp26841= | |
| XM_024453096.1:c.79956C>T (TTN) | XP_024308864.1:p.Asp26652= | |
| XM_024453097.1:c.77298C>T (TTN) | XP_024308865.1:p.Asp25766= | |
| XM_024453098.1:c.77217C>T (TTN) | XP_024308866.1:p.Asp25739= | |
| XM_024453099.1:c.58980C>T (TTN) | XP_024308867.1:p.Asp19660= | |
| XM_024453100.1:c.48834C>T (TTN) | XP_024308868.1:p.Asp16278= |