Linked Data
ClinVar Variation Id:
47671
dbSNP Id:
rs397517790
ExAC:
2:179396957 C / T
gnomAD v2:
2-179396957-C-T
gnomAD v3:
2-178532230-C-T
gnomAD v4:
2-178532230-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532230C>T , CM000664.2:g.178532230C>T | GRCh38 |
| NC_000002.11:g.179396957C>T , CM000664.1:g.179396957C>T | GRCh37 |
| NC_000002.10:g.179105203C>T | NCBI36 |
| NG_011618.3:g.303573G>A , LRG_391:g.303573G>A | |
| NG_051363.1:g.14404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96681G>A (TTN) | ENSP00000343764.6:p.Lys32227= | |
| ENST00000342175.11:c.77766G>A (TTN) | ENSP00000340554.6:p.Lys25922= | |
| ENST00000359218.10:c.77565G>A (TTN) | ENSP00000352154.5:p.Lys25855= | |
| ENST00000342175.10:c.77766G>A (TTN) | ENSP00000340554.6:p.Lys25922= | |
| ENST00000342992.10:c.96681G>A (TTN) | ENSP00000343764.6:p.Lys32227= | |
| ENST00000359218.9:c.77565G>A (TTN) | ENSP00000352154.5:p.Lys25855= | |
| ENST00000460472.6:c.77190G>A (TTN) | ENSP00000434586.1:p.Lys25730= | |
| ENST00000589042.5:c.104385G>A (TTN) MANE Select | ENSP00000467141.1:p.Lys34795= | |
| ENST00000591111.5:c.99462G>A (TTN) | ENSP00000465570.1:p.Lys33154= | |
| ENST00000615779.4:c.99462G>A (TTN) | ENSP00000483597.1:p.Lys33154= | |
| NM_001256850.1:c.99462G>A (TTN) | NP_001243779.1:p.Lys33154= | |
| NM_001267550.2:c.104385G>A (TTN) MANE Select | NP_001254479.2:p.Lys34795= | |
| NM_003319.4:c.77190G>A (TTN) | NP_003310.4:p.Lys25730= | |
| NM_133378.4:c.96681G>A (TTN) | NP_596869.4:p.Lys32227= | |
| NM_133432.3:c.77565G>A (TTN) | NP_597676.3:p.Lys25855= | |
| NM_133437.4:c.77766G>A (TTN) | NP_597681.4:p.Lys25922= | |
| NR_038271.1:n.446+8594C>T (TTN-AS1) | ||
| NR_038272.1:n.220-3502C>T (TTN-AS1) | ||
| XM_011511729.1:c.103482G>A (TTN) | XP_011510031.1:p.Lys34494= | |
| XM_011511730.1:c.77376G>A (TTN) | XP_011510032.1:p.Lys25792= | |
| XM_011511731.1:c.77235G>A (TTN) | XP_011510033.1:p.Lys25745= | |
| XM_017004819.1:c.103278G>A (TTN) | XP_016860308.1:p.Lys34426= | |
| XM_017004820.1:c.98676G>A (TTN) | XP_016860309.1:p.Lys32892= | |
| XM_017004821.1:c.98673G>A (TTN) | XP_016860310.1:p.Lys32891= | |
| XM_017004822.1:c.95715G>A (TTN) | XP_016860311.1:p.Lys31905= | |
| XM_017004823.1:c.77331G>A (TTN) | XP_016860312.1:p.Lys25777= | |
| XM_024453094.1:c.98826G>A (TTN) | XP_024308862.1:p.Lys32942= | |
| XM_024453095.1:c.98823G>A (TTN) | XP_024308863.1:p.Lys32941= | |
| XM_024453096.1:c.98256G>A (TTN) | XP_024308864.1:p.Lys32752= | |
| XM_024453097.1:c.95598G>A (TTN) | XP_024308865.1:p.Lys31866= | |
| XM_024453098.1:c.95517G>A (TTN) | XP_024308866.1:p.Lys31839= | |
| XM_024453099.1:c.77280G>A (TTN) | XP_024308867.1:p.Lys25760= | |
| XM_024453100.1:c.67134G>A (TTN) | XP_024308868.1:p.Lys22378= |