Linked Data
ClinVar Variation Id:
203079
dbSNP Id:
rs772532135
ExAC:
2:179396989 C / G
gnomAD v2:
2-179396989-C-G
gnomAD v3:
2-178532262-C-G
gnomAD v4:
2-178532262-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532262C>G , CM000664.2:g.178532262C>G | GRCh38 |
| NC_000002.11:g.179396989C>G , CM000664.1:g.179396989C>G | GRCh37 |
| NC_000002.10:g.179105235C>G | NCBI36 |
| NG_011618.3:g.303541G>C , LRG_391:g.303541G>C | |
| NG_051363.1:g.14436C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96649G>C (TTN) | ENSP00000343764.6:p.Glu32217Gln | |
| ENST00000342175.11:c.77734G>C (TTN) | ENSP00000340554.6:p.Glu25912Gln | |
| ENST00000359218.10:c.77533G>C (TTN) | ENSP00000352154.5:p.Glu25845Gln | |
| ENST00000342175.10:c.77734G>C (TTN) | ENSP00000340554.6:p.Glu25912Gln | |
| ENST00000342992.10:c.96649G>C (TTN) | ENSP00000343764.6:p.Glu32217Gln | |
| ENST00000359218.9:c.77533G>C (TTN) | ENSP00000352154.5:p.Glu25845Gln | |
| ENST00000460472.6:c.77158G>C (TTN) | ENSP00000434586.1:p.Glu25720Gln | |
| ENST00000589042.5:c.104353G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu34785Gln | |
| ENST00000591111.5:c.99430G>C (TTN) | ENSP00000465570.1:p.Glu33144Gln | |
| ENST00000615779.4:c.99430G>C (TTN) | ENSP00000483597.1:p.Glu33144Gln | |
| NM_001256850.1:c.99430G>C (TTN) | NP_001243779.1:p.Glu33144Gln | |
| NM_001267550.2:c.104353G>C (TTN) MANE Select | NP_001254479.2:p.Glu34785Gln | |
| NM_003319.4:c.77158G>C (TTN) | NP_003310.4:p.Glu25720Gln | |
| NM_133378.4:c.96649G>C (TTN) | NP_596869.4:p.Glu32217Gln | |
| NM_133432.3:c.77533G>C (TTN) | NP_597676.3:p.Glu25845Gln | |
| NM_133437.4:c.77734G>C (TTN) | NP_597681.4:p.Glu25912Gln | |
| NR_038271.1:n.446+8626C>G (TTN-AS1) | ||
| NR_038272.1:n.220-3470C>G (TTN-AS1) | ||
| XM_011511729.1:c.103450G>C (TTN) | XP_011510031.1:p.Glu34484Gln | |
| XM_011511730.1:c.77344G>C (TTN) | XP_011510032.1:p.Glu25782Gln | |
| XM_011511731.1:c.77203G>C (TTN) | XP_011510033.1:p.Glu25735Gln | |
| XM_017004819.1:c.103246G>C (TTN) | XP_016860308.1:p.Glu34416Gln | |
| XM_017004820.1:c.98644G>C (TTN) | XP_016860309.1:p.Glu32882Gln | |
| XM_017004821.1:c.98641G>C (TTN) | XP_016860310.1:p.Glu32881Gln | |
| XM_017004822.1:c.95683G>C (TTN) | XP_016860311.1:p.Glu31895Gln | |
| XM_017004823.1:c.77299G>C (TTN) | XP_016860312.1:p.Glu25767Gln | |
| XM_024453094.1:c.98794G>C (TTN) | XP_024308862.1:p.Glu32932Gln | |
| XM_024453095.1:c.98791G>C (TTN) | XP_024308863.1:p.Glu32931Gln | |
| XM_024453096.1:c.98224G>C (TTN) | XP_024308864.1:p.Glu32742Gln | |
| XM_024453097.1:c.95566G>C (TTN) | XP_024308865.1:p.Glu31856Gln | |
| XM_024453098.1:c.95485G>C (TTN) | XP_024308866.1:p.Glu31829Gln | |
| XM_024453099.1:c.77248G>C (TTN) | XP_024308867.1:p.Glu25750Gln | |
| XM_024453100.1:c.67102G>C (TTN) | XP_024308868.1:p.Glu22368Gln |