Linked Data
ClinVar Variation Id:
1502498
ClinVar RCV Id:
RCV002011008
dbSNP Id:
rs1689413849
gnomAD v3:
2-178532145-G-A
gnomAD v4:
2-178532145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532145G>A , CM000664.2:g.178532145G>A | GRCh38 |
| NC_000002.11:g.179396872G>A , CM000664.1:g.179396872G>A | GRCh37 |
| NC_000002.10:g.179105118G>A | NCBI36 |
| NG_011618.3:g.303658C>T , LRG_391:g.303658C>T | |
| NG_051363.1:g.14319G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96766C>T (TTN) | ENSP00000343764.6:p.His32256Tyr | |
| ENST00000342175.11:c.77851C>T (TTN) | ENSP00000340554.6:p.His25951Tyr | |
| ENST00000359218.10:c.77650C>T (TTN) | ENSP00000352154.5:p.His25884Tyr | |
| ENST00000342175.10:c.77851C>T (TTN) | ENSP00000340554.6:p.His25951Tyr | |
| ENST00000342992.10:c.96766C>T (TTN) | ENSP00000343764.6:p.His32256Tyr | |
| ENST00000359218.9:c.77650C>T (TTN) | ENSP00000352154.5:p.His25884Tyr | |
| ENST00000460472.6:c.77275C>T (TTN) | ENSP00000434586.1:p.His25759Tyr | |
| ENST00000589042.5:c.104470C>T (TTN) MANE Select | ENSP00000467141.1:p.His34824Tyr | |
| ENST00000591111.5:c.99547C>T (TTN) | ENSP00000465570.1:p.His33183Tyr | |
| ENST00000615779.4:c.99547C>T (TTN) | ENSP00000483597.1:p.His33183Tyr | |
| NM_001256850.1:c.99547C>T (TTN) | NP_001243779.1:p.His33183Tyr | |
| NM_001267550.2:c.104470C>T (TTN) MANE Select | NP_001254479.2:p.His34824Tyr | |
| NM_003319.4:c.77275C>T (TTN) | NP_003310.4:p.His25759Tyr | |
| NM_133378.4:c.96766C>T (TTN) | NP_596869.4:p.His32256Tyr | |
| NM_133432.3:c.77650C>T (TTN) | NP_597676.3:p.His25884Tyr | |
| NM_133437.4:c.77851C>T (TTN) | NP_597681.4:p.His25951Tyr | |
| NR_038271.1:n.446+8509G>A (TTN-AS1) | ||
| NR_038272.1:n.220-3587G>A (TTN-AS1) | ||
| XM_011511729.1:c.103567C>T (TTN) | XP_011510031.1:p.His34523Tyr | |
| XM_011511730.1:c.77461C>T (TTN) | XP_011510032.1:p.His25821Tyr | |
| XM_011511731.1:c.77320C>T (TTN) | XP_011510033.1:p.His25774Tyr | |
| XM_017004819.1:c.103363C>T (TTN) | XP_016860308.1:p.His34455Tyr | |
| XM_017004820.1:c.98761C>T (TTN) | XP_016860309.1:p.His32921Tyr | |
| XM_017004821.1:c.98758C>T (TTN) | XP_016860310.1:p.His32920Tyr | |
| XM_017004822.1:c.95800C>T (TTN) | XP_016860311.1:p.His31934Tyr | |
| XM_017004823.1:c.77416C>T (TTN) | XP_016860312.1:p.His25806Tyr | |
| XM_024453094.1:c.98911C>T (TTN) | XP_024308862.1:p.His32971Tyr | |
| XM_024453095.1:c.98908C>T (TTN) | XP_024308863.1:p.His32970Tyr | |
| XM_024453096.1:c.98341C>T (TTN) | XP_024308864.1:p.His32781Tyr | |
| XM_024453097.1:c.95683C>T (TTN) | XP_024308865.1:p.His31895Tyr | |
| XM_024453098.1:c.95602C>T (TTN) | XP_024308866.1:p.His31868Tyr | |
| XM_024453099.1:c.77365C>T (TTN) | XP_024308867.1:p.His25789Tyr | |
| XM_024453100.1:c.67219C>T (TTN) | XP_024308868.1:p.His22407Tyr |