Linked Data
ClinVar Variation Id:
332828
dbSNP Id:
rs769824680
ExAC:
2:179463676 G / A
gnomAD v2:
2-179463676-G-A
gnomAD v3:
2-178598949-G-A
gnomAD v4:
2-178598949-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178598949G>A , CM000664.2:g.178598949G>A | GRCh38 |
| NC_000002.11:g.179463676G>A , CM000664.1:g.179463676G>A | GRCh37 |
| NC_000002.10:g.179171921G>A | NCBI36 |
| NG_011618.3:g.236854C>T , LRG_391:g.236854C>T | |
| NG_051363.1:g.81123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.49057C>T (TTN) | ENSP00000343764.6:p.Leu16353= | |
| ENST00000342175.11:c.30142C>T (TTN) | ENSP00000340554.6:p.Leu10048= | |
| ENST00000359218.10:c.29941C>T (TTN) | ENSP00000352154.5:p.Leu9981= | |
| ENST00000342175.10:c.30142C>T (TTN) | ENSP00000340554.6:p.Leu10048= | |
| ENST00000342992.10:c.49057C>T (TTN) | ENSP00000343764.6:p.Leu16353= | |
| ENST00000359218.9:c.29941C>T (TTN) | ENSP00000352154.5:p.Leu9981= | |
| ENST00000460472.6:c.29566C>T (TTN) | ENSP00000434586.1:p.Leu9856= | |
| ENST00000589042.5:c.56761C>T (TTN) MANE Select | ENSP00000467141.1:p.Leu18921= | |
| ENST00000591111.5:c.51838C>T (TTN) | ENSP00000465570.1:p.Leu17280= | |
| ENST00000615779.4:c.51838C>T (TTN) | ENSP00000483597.1:p.Leu17280= | |
| NM_001256850.1:c.51838C>T (TTN) | NP_001243779.1:p.Leu17280= | |
| NM_001267550.2:c.56761C>T (TTN) MANE Select | NP_001254479.2:p.Leu18921= | |
| NM_003319.4:c.29566C>T (TTN) | NP_003310.4:p.Leu9856= | |
| NM_133378.4:c.49057C>T (TTN) | NP_596869.4:p.Leu16353= | |
| NM_133432.3:c.29941C>T (TTN) | NP_597676.3:p.Leu9981= | |
| NM_133437.4:c.30142C>T (TTN) | NP_597681.4:p.Leu10048= | |
| NR_038271.1:n.682+1268G>A (TTN-AS1) | ||
| NR_038272.1:n.3568+276G>A (TTN-AS1) | ||
| XM_011511729.1:c.55858C>T (TTN) | XP_011510031.1:p.Leu18620= | |
| XM_011511730.1:c.29752C>T (TTN) | XP_011510032.1:p.Leu9918= | |
| XM_011511731.1:c.29611C>T (TTN) | XP_011510033.1:p.Leu9871= | |
| XM_017004819.1:c.55654C>T (TTN) | XP_016860308.1:p.Leu18552= | |
| XM_017004820.1:c.51052C>T (TTN) | XP_016860309.1:p.Leu17018= | |
| XM_017004821.1:c.51049C>T (TTN) | XP_016860310.1:p.Leu17017= | |
| XM_017004822.1:c.48091C>T (TTN) | XP_016860311.1:p.Leu16031= | |
| XM_017004823.1:c.29707C>T (TTN) | XP_016860312.1:p.Leu9903= | |
| XM_024453094.1:c.51202C>T (TTN) | XP_024308862.1:p.Leu17068= | |
| XM_024453095.1:c.51199C>T (TTN) | XP_024308863.1:p.Leu17067= | |
| XM_024453096.1:c.50632C>T (TTN) | XP_024308864.1:p.Leu16878= | |
| XM_024453097.1:c.47974C>T (TTN) | XP_024308865.1:p.Leu15992= | |
| XM_024453098.1:c.47893C>T (TTN) | XP_024308866.1:p.Leu15965= | |
| XM_024453099.1:c.29656C>T (TTN) | XP_024308867.1:p.Leu9886= | |
| XM_024453100.1:c.19510C>T (TTN) | XP_024308868.1:p.Leu6504= |