Linked Data
ClinVar Variation Id:
332761
dbSNP Id:
rs749305586
ExAC:
2:179429336 C / T
gnomAD v2:
2-179429336-C-T
gnomAD v3:
2-178564609-C-T
gnomAD v4:
2-178564609-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564609C>T , CM000664.2:g.178564609C>T | GRCh38 |
| NC_000002.11:g.179429336C>T , CM000664.1:g.179429336C>T | GRCh37 |
| NC_000002.10:g.179137582C>T | NCBI36 |
| NG_011618.3:g.271194G>A , LRG_391:g.271194G>A | |
| NG_051363.1:g.46783C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73819G>A (TTN) | ENSP00000343764.6:p.Gly24607Ser | |
| ENST00000342175.11:c.54904G>A (TTN) | ENSP00000340554.6:p.Gly18302Ser | |
| ENST00000359218.10:c.54703G>A (TTN) | ENSP00000352154.5:p.Gly18235Ser | |
| ENST00000342175.10:c.54904G>A (TTN) | ENSP00000340554.6:p.Gly18302Ser | |
| ENST00000342992.10:c.73819G>A (TTN) | ENSP00000343764.6:p.Gly24607Ser | |
| ENST00000359218.9:c.54703G>A (TTN) | ENSP00000352154.5:p.Gly18235Ser | |
| ENST00000460472.6:c.54328G>A (TTN) | ENSP00000434586.1:p.Gly18110Ser | |
| ENST00000589042.5:c.81523G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly27175Ser | |
| ENST00000591111.5:c.76600G>A (TTN) | ENSP00000465570.1:p.Gly25534Ser | |
| ENST00000615779.4:c.76600G>A (TTN) | ENSP00000483597.1:p.Gly25534Ser | |
| NM_001256850.1:c.76600G>A (TTN) | NP_001243779.1:p.Gly25534Ser | |
| NM_001267550.2:c.81523G>A (TTN) MANE Select | NP_001254479.2:p.Gly27175Ser | |
| NM_003319.4:c.54328G>A (TTN) | NP_003310.4:p.Gly18110Ser | |
| NM_133378.4:c.73819G>A (TTN) | NP_596869.4:p.Gly24607Ser | |
| NM_133432.3:c.54703G>A (TTN) | NP_597676.3:p.Gly18235Ser | |
| NM_133437.4:c.54904G>A (TTN) | NP_597681.4:p.Gly18302Ser | |
| NR_038271.1:n.447-6691C>T (TTN-AS1) | ||
| NR_038272.1:n.2044-17963C>T (TTN-AS1) | ||
| XM_011511729.1:c.80620G>A (TTN) | XP_011510031.1:p.Gly26874Ser | |
| XM_011511730.1:c.54514G>A (TTN) | XP_011510032.1:p.Gly18172Ser | |
| XM_011511731.1:c.54373G>A (TTN) | XP_011510033.1:p.Gly18125Ser | |
| XM_017004819.1:c.80416G>A (TTN) | XP_016860308.1:p.Gly26806Ser | |
| XM_017004820.1:c.75814G>A (TTN) | XP_016860309.1:p.Gly25272Ser | |
| XM_017004821.1:c.75811G>A (TTN) | XP_016860310.1:p.Gly25271Ser | |
| XM_017004822.1:c.72853G>A (TTN) | XP_016860311.1:p.Gly24285Ser | |
| XM_017004823.1:c.54469G>A (TTN) | XP_016860312.1:p.Gly18157Ser | |
| XM_024453094.1:c.75964G>A (TTN) | XP_024308862.1:p.Gly25322Ser | |
| XM_024453095.1:c.75961G>A (TTN) | XP_024308863.1:p.Gly25321Ser | |
| XM_024453096.1:c.75394G>A (TTN) | XP_024308864.1:p.Gly25132Ser | |
| XM_024453097.1:c.72736G>A (TTN) | XP_024308865.1:p.Gly24246Ser | |
| XM_024453098.1:c.72655G>A (TTN) | XP_024308866.1:p.Gly24219Ser | |
| XM_024453099.1:c.54418G>A (TTN) | XP_024308867.1:p.Gly18140Ser | |
| XM_024453100.1:c.44272G>A (TTN) | XP_024308868.1:p.Gly14758Ser |