Linked Data
ClinVar Variation Id:
283290
dbSNP Id:
rs770089807
ExAC:
2:179401720 G / A
gnomAD v2:
2-179401720-G-A
gnomAD v4:
2-178536993-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536993G>A , CM000664.2:g.178536993G>A | GRCh38 |
| NC_000002.11:g.179401720G>A , CM000664.1:g.179401720G>A | GRCh37 |
| NC_000002.10:g.179109966G>A | NCBI36 |
| NG_011618.3:g.298810C>T , LRG_391:g.298810C>T | |
| NG_051363.1:g.19167G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92412C>T (TTN) | ENSP00000343764.6:p.Phe30804= | |
| ENST00000342175.11:c.73497C>T (TTN) | ENSP00000340554.6:p.Phe24499= | |
| ENST00000359218.10:c.73296C>T (TTN) | ENSP00000352154.5:p.Phe24432= | |
| ENST00000342175.10:c.73497C>T (TTN) | ENSP00000340554.6:p.Phe24499= | |
| ENST00000342992.10:c.92412C>T (TTN) | ENSP00000343764.6:p.Phe30804= | |
| ENST00000359218.9:c.73296C>T (TTN) | ENSP00000352154.5:p.Phe24432= | |
| ENST00000460472.6:c.72921C>T (TTN) | ENSP00000434586.1:p.Phe24307= | |
| ENST00000589042.5:c.100116C>T (TTN) MANE Select | ENSP00000467141.1:p.Phe33372= | |
| ENST00000591111.5:c.95193C>T (TTN) | ENSP00000465570.1:p.Phe31731= | |
| ENST00000615779.4:c.95193C>T (TTN) | ENSP00000483597.1:p.Phe31731= | |
| NM_001256850.1:c.95193C>T (TTN) | NP_001243779.1:p.Phe31731= | |
| NM_001267550.2:c.100116C>T (TTN) MANE Select | NP_001254479.2:p.Phe33372= | |
| NM_003319.4:c.72921C>T (TTN) | NP_003310.4:p.Phe24307= | |
| NM_133378.4:c.92412C>T (TTN) | NP_596869.4:p.Phe30804= | |
| NM_133432.3:c.73296C>T (TTN) | NP_597676.3:p.Phe24432= | |
| NM_133437.4:c.73497C>T (TTN) | NP_597681.4:p.Phe24499= | |
| NR_038271.1:n.446+13357G>A (TTN-AS1) | ||
| NR_038272.1:n.317-368G>A (TTN-AS1) | ||
| XM_011511729.1:c.99213C>T (TTN) | XP_011510031.1:p.Phe33071= | |
| XM_011511730.1:c.73107C>T (TTN) | XP_011510032.1:p.Phe24369= | |
| XM_011511731.1:c.72966C>T (TTN) | XP_011510033.1:p.Phe24322= | |
| XM_017004819.1:c.99009C>T (TTN) | XP_016860308.1:p.Phe33003= | |
| XM_017004820.1:c.94407C>T (TTN) | XP_016860309.1:p.Phe31469= | |
| XM_017004821.1:c.94404C>T (TTN) | XP_016860310.1:p.Phe31468= | |
| XM_017004822.1:c.91446C>T (TTN) | XP_016860311.1:p.Phe30482= | |
| XM_017004823.1:c.73062C>T (TTN) | XP_016860312.1:p.Phe24354= | |
| XM_024453094.1:c.94557C>T (TTN) | XP_024308862.1:p.Phe31519= | |
| XM_024453095.1:c.94554C>T (TTN) | XP_024308863.1:p.Phe31518= | |
| XM_024453096.1:c.93987C>T (TTN) | XP_024308864.1:p.Phe31329= | |
| XM_024453097.1:c.91329C>T (TTN) | XP_024308865.1:p.Phe30443= | |
| XM_024453098.1:c.91248C>T (TTN) | XP_024308866.1:p.Phe30416= | |
| XM_024453099.1:c.73011C>T (TTN) | XP_024308867.1:p.Phe24337= | |
| XM_024453100.1:c.62865C>T (TTN) | XP_024308868.1:p.Phe20955= |