Linked Data
ClinVar Variation Id:
47463
dbSNP Id:
rs375198596
ExAC:
2:179422714 T / G
gnomAD v2:
2-179422714-T-G
gnomAD v3:
2-178557987-T-G
gnomAD v4:
2-178557987-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178557987T>G , CM000664.2:g.178557987T>G | GRCh38 |
| NC_000002.11:g.179422714T>G , CM000664.1:g.179422714T>G | GRCh37 |
| NC_000002.10:g.179130960T>G | NCBI36 |
| NG_011618.3:g.277816A>C , LRG_391:g.277816A>C | |
| NG_051363.1:g.40161T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79663A>C (TTN) | ENSP00000343764.6:p.Ser26555Arg | |
| ENST00000342175.11:c.60748A>C (TTN) | ENSP00000340554.6:p.Ser20250Arg | |
| ENST00000359218.10:c.60547A>C (TTN) | ENSP00000352154.5:p.Ser20183Arg | |
| ENST00000342175.10:c.60748A>C (TTN) | ENSP00000340554.6:p.Ser20250Arg | |
| ENST00000342992.10:c.79663A>C (TTN) | ENSP00000343764.6:p.Ser26555Arg | |
| ENST00000359218.9:c.60547A>C (TTN) | ENSP00000352154.5:p.Ser20183Arg | |
| ENST00000460472.6:c.60172A>C (TTN) | ENSP00000434586.1:p.Ser20058Arg | |
| ENST00000589042.5:c.87367A>C (TTN) MANE Select | ENSP00000467141.1:p.Ser29123Arg | |
| ENST00000591111.5:c.82444A>C (TTN) | ENSP00000465570.1:p.Ser27482Arg | |
| ENST00000615779.4:c.82444A>C (TTN) | ENSP00000483597.1:p.Ser27482Arg | |
| NM_001256850.1:c.82444A>C (TTN) | NP_001243779.1:p.Ser27482Arg | |
| NM_001267550.2:c.87367A>C (TTN) MANE Select | NP_001254479.2:p.Ser29123Arg | |
| NM_003319.4:c.60172A>C (TTN) | NP_003310.4:p.Ser20058Arg | |
| NM_133378.4:c.79663A>C (TTN) | NP_596869.4:p.Ser26555Arg | |
| NM_133432.3:c.60547A>C (TTN) | NP_597676.3:p.Ser20183Arg | |
| NM_133437.4:c.60748A>C (TTN) | NP_597681.4:p.Ser20250Arg | |
| NR_038271.1:n.447-13313T>G (TTN-AS1) | ||
| NR_038272.1:n.2043+15626T>G (TTN-AS1) | ||
| XM_011511729.1:c.86464A>C (TTN) | XP_011510031.1:p.Ser28822Arg | |
| XM_011511730.1:c.60358A>C (TTN) | XP_011510032.1:p.Ser20120Arg | |
| XM_011511731.1:c.60217A>C (TTN) | XP_011510033.1:p.Ser20073Arg | |
| XM_017004819.1:c.86260A>C (TTN) | XP_016860308.1:p.Ser28754Arg | |
| XM_017004820.1:c.81658A>C (TTN) | XP_016860309.1:p.Ser27220Arg | |
| XM_017004821.1:c.81655A>C (TTN) | XP_016860310.1:p.Ser27219Arg | |
| XM_017004822.1:c.78697A>C (TTN) | XP_016860311.1:p.Ser26233Arg | |
| XM_017004823.1:c.60313A>C (TTN) | XP_016860312.1:p.Ser20105Arg | |
| XM_024453094.1:c.81808A>C (TTN) | XP_024308862.1:p.Ser27270Arg | |
| XM_024453095.1:c.81805A>C (TTN) | XP_024308863.1:p.Ser27269Arg | |
| XM_024453096.1:c.81238A>C (TTN) | XP_024308864.1:p.Ser27080Arg | |
| XM_024453097.1:c.78580A>C (TTN) | XP_024308865.1:p.Ser26194Arg | |
| XM_024453098.1:c.78499A>C (TTN) | XP_024308866.1:p.Ser26167Arg | |
| XM_024453099.1:c.60262A>C (TTN) | XP_024308867.1:p.Ser20088Arg | |
| XM_024453100.1:c.50116A>C (TTN) | XP_024308868.1:p.Ser16706Arg |