Linked Data
ClinVar Variation Id:
202794
dbSNP Id:
rs781121273
ExAC:
2:179449096 G / C
gnomAD v2:
2-179449096-G-C
gnomAD v3:
2-178584369-G-C
gnomAD v4:
2-178584369-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178584369G>C , CM000664.2:g.178584369G>C | GRCh38 |
| NC_000002.11:g.179449096G>C , CM000664.1:g.179449096G>C | GRCh37 |
| NC_000002.10:g.179157342G>C | NCBI36 |
| NG_011618.3:g.251434C>G , LRG_391:g.251434C>G | |
| NG_051363.1:g.66543G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.57478C>G (TTN) | ENSP00000343764.6:p.Leu19160Val | |
| ENST00000342175.11:c.38563C>G (TTN) | ENSP00000340554.6:p.Leu12855Val | |
| ENST00000359218.10:c.38362C>G (TTN) | ENSP00000352154.5:p.Leu12788Val | |
| ENST00000342175.10:c.38563C>G (TTN) | ENSP00000340554.6:p.Leu12855Val | |
| ENST00000342992.10:c.57478C>G (TTN) | ENSP00000343764.6:p.Leu19160Val | |
| ENST00000359218.9:c.38362C>G (TTN) | ENSP00000352154.5:p.Leu12788Val | |
| ENST00000460472.6:c.37987C>G (TTN) | ENSP00000434586.1:p.Leu12663Val | |
| ENST00000589042.5:c.65182C>G (TTN) MANE Select | ENSP00000467141.1:p.Leu21728Val | |
| ENST00000591111.5:c.60259C>G (TTN) | ENSP00000465570.1:p.Leu20087Val | |
| ENST00000615779.4:c.60259C>G (TTN) | ENSP00000483597.1:p.Leu20087Val | |
| NM_001256850.1:c.60259C>G (TTN) | NP_001243779.1:p.Leu20087Val | |
| NM_001267550.2:c.65182C>G (TTN) MANE Select | NP_001254479.2:p.Leu21728Val | |
| NM_003319.4:c.37987C>G (TTN) | NP_003310.4:p.Leu12663Val | |
| NM_133378.4:c.57478C>G (TTN) | NP_596869.4:p.Leu19160Val | |
| NM_133432.3:c.38362C>G (TTN) | NP_597676.3:p.Leu12788Val | |
| NM_133437.4:c.38563C>G (TTN) | NP_597681.4:p.Leu12855Val | |
| NR_038271.1:n.596+12920G>C (TTN-AS1) | ||
| NR_038272.1:n.2768-204G>C (TTN-AS1) | ||
| XM_011511729.1:c.64279C>G (TTN) | XP_011510031.1:p.Leu21427Val | |
| XM_011511730.1:c.38173C>G (TTN) | XP_011510032.1:p.Leu12725Val | |
| XM_011511731.1:c.38032C>G (TTN) | XP_011510033.1:p.Leu12678Val | |
| XM_017004819.1:c.64075C>G (TTN) | XP_016860308.1:p.Leu21359Val | |
| XM_017004820.1:c.59473C>G (TTN) | XP_016860309.1:p.Leu19825Val | |
| XM_017004821.1:c.59470C>G (TTN) | XP_016860310.1:p.Leu19824Val | |
| XM_017004822.1:c.56512C>G (TTN) | XP_016860311.1:p.Leu18838Val | |
| XM_017004823.1:c.38128C>G (TTN) | XP_016860312.1:p.Leu12710Val | |
| XM_024453094.1:c.59623C>G (TTN) | XP_024308862.1:p.Leu19875Val | |
| XM_024453095.1:c.59620C>G (TTN) | XP_024308863.1:p.Leu19874Val | |
| XM_024453096.1:c.59053C>G (TTN) | XP_024308864.1:p.Leu19685Val | |
| XM_024453097.1:c.56395C>G (TTN) | XP_024308865.1:p.Leu18799Val | |
| XM_024453098.1:c.56314C>G (TTN) | XP_024308866.1:p.Leu18772Val | |
| XM_024453099.1:c.38077C>G (TTN) | XP_024308867.1:p.Leu12693Val | |
| XM_024453100.1:c.27931C>G (TTN) | XP_024308868.1:p.Leu9311Val |