Linked Data
ClinVar Variation Id:
522707
dbSNP Id:
rs776793953
ExAC:
2:179411152 C / T
gnomAD v2:
2-179411152-C-T
gnomAD v3:
2-178546425-C-T
gnomAD v4:
2-178546425-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178546425C>T , CM000664.2:g.178546425C>T | GRCh38 |
| NC_000002.11:g.179411152C>T , CM000664.1:g.179411152C>T | GRCh37 |
| NC_000002.10:g.179119398C>T | NCBI36 |
| NG_011618.3:g.289378G>A , LRG_391:g.289378G>A | |
| NG_051363.1:g.28599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.87202G>A (TTN) | ENSP00000343764.6:p.Asp29068Asn | |
| ENST00000342175.11:c.68287G>A (TTN) | ENSP00000340554.6:p.Asp22763Asn | |
| ENST00000359218.10:c.68086G>A (TTN) | ENSP00000352154.5:p.Asp22696Asn | |
| ENST00000342175.10:c.68287G>A (TTN) | ENSP00000340554.6:p.Asp22763Asn | |
| ENST00000342992.10:c.87202G>A (TTN) | ENSP00000343764.6:p.Asp29068Asn | |
| ENST00000359218.9:c.68086G>A (TTN) | ENSP00000352154.5:p.Asp22696Asn | |
| ENST00000460472.6:c.67711G>A (TTN) | ENSP00000434586.1:p.Asp22571Asn | |
| ENST00000589042.5:c.94906G>A (TTN) MANE Select | ENSP00000467141.1:p.Asp31636Asn | |
| ENST00000591111.5:c.89983G>A (TTN) | ENSP00000465570.1:p.Asp29995Asn | |
| ENST00000615779.4:c.89983G>A (TTN) | ENSP00000483597.1:p.Asp29995Asn | |
| NM_001256850.1:c.89983G>A (TTN) | NP_001243779.1:p.Asp29995Asn | |
| NM_001267550.2:c.94906G>A (TTN) MANE Select | NP_001254479.2:p.Asp31636Asn | |
| NM_003319.4:c.67711G>A (TTN) | NP_003310.4:p.Asp22571Asn | |
| NM_133378.4:c.87202G>A (TTN) | NP_596869.4:p.Asp29068Asn | |
| NM_133432.3:c.68086G>A (TTN) | NP_597676.3:p.Asp22696Asn | |
| NM_133437.4:c.68287G>A (TTN) | NP_597681.4:p.Asp22763Asn | |
| NR_038271.1:n.446+22789C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+4064C>T (TTN-AS1) | ||
| XM_011511729.1:c.94003G>A (TTN) | XP_011510031.1:p.Asp31335Asn | |
| XM_011511730.1:c.67897G>A (TTN) | XP_011510032.1:p.Asp22633Asn | |
| XM_011511731.1:c.67756G>A (TTN) | XP_011510033.1:p.Asp22586Asn | |
| XM_017004819.1:c.93799G>A (TTN) | XP_016860308.1:p.Asp31267Asn | |
| XM_017004820.1:c.89197G>A (TTN) | XP_016860309.1:p.Asp29733Asn | |
| XM_017004821.1:c.89194G>A (TTN) | XP_016860310.1:p.Asp29732Asn | |
| XM_017004822.1:c.86236G>A (TTN) | XP_016860311.1:p.Asp28746Asn | |
| XM_017004823.1:c.67852G>A (TTN) | XP_016860312.1:p.Asp22618Asn | |
| XM_024453094.1:c.89347G>A (TTN) | XP_024308862.1:p.Asp29783Asn | |
| XM_024453095.1:c.89344G>A (TTN) | XP_024308863.1:p.Asp29782Asn | |
| XM_024453096.1:c.88777G>A (TTN) | XP_024308864.1:p.Asp29593Asn | |
| XM_024453097.1:c.86119G>A (TTN) | XP_024308865.1:p.Asp28707Asn | |
| XM_024453098.1:c.86038G>A (TTN) | XP_024308866.1:p.Asp28680Asn | |
| XM_024453099.1:c.67801G>A (TTN) | XP_024308867.1:p.Asp22601Asn | |
| XM_024453100.1:c.57655G>A (TTN) | XP_024308868.1:p.Asp19219Asn |