Linked Data
ClinVar Variation Id:
202929
dbSNP Id:
rs190721759
ExAC:
2:179425744 C / T
gnomAD v2:
2-179425744-C-T
gnomAD v3:
2-178561017-C-T
gnomAD v4:
2-178561017-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178561017C>T , CM000664.2:g.178561017C>T | GRCh38 |
| NC_000002.11:g.179425744C>T , CM000664.1:g.179425744C>T | GRCh37 |
| NC_000002.10:g.179133990C>T | NCBI36 |
| NG_011618.3:g.274786G>A , LRG_391:g.274786G>A | |
| NG_051363.1:g.43191C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.77411G>A (TTN) | ENSP00000343764.6:p.Gly25804Glu | |
| ENST00000342175.11:c.58496G>A (TTN) | ENSP00000340554.6:p.Gly19499Glu | |
| ENST00000359218.10:c.58295G>A (TTN) | ENSP00000352154.5:p.Gly19432Glu | |
| ENST00000342175.10:c.58496G>A (TTN) | ENSP00000340554.6:p.Gly19499Glu | |
| ENST00000342992.10:c.77411G>A (TTN) | ENSP00000343764.6:p.Gly25804Glu | |
| ENST00000359218.9:c.58295G>A (TTN) | ENSP00000352154.5:p.Gly19432Glu | |
| ENST00000460472.6:c.57920G>A (TTN) | ENSP00000434586.1:p.Gly19307Glu | |
| ENST00000589042.5:c.85115G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly28372Glu | |
| ENST00000591111.5:c.80192G>A (TTN) | ENSP00000465570.1:p.Gly26731Glu | |
| ENST00000615779.4:c.80192G>A (TTN) | ENSP00000483597.1:p.Gly26731Glu | |
| NM_001256850.1:c.80192G>A (TTN) | NP_001243779.1:p.Gly26731Glu | |
| NM_001267550.2:c.85115G>A (TTN) MANE Select | NP_001254479.2:p.Gly28372Glu | |
| NM_003319.4:c.57920G>A (TTN) | NP_003310.4:p.Gly19307Glu | |
| NM_133378.4:c.77411G>A (TTN) | NP_596869.4:p.Gly25804Glu | |
| NM_133432.3:c.58295G>A (TTN) | NP_597676.3:p.Gly19432Glu | |
| NM_133437.4:c.58496G>A (TTN) | NP_597681.4:p.Gly19499Glu | |
| NR_038271.1:n.447-10283C>T (TTN-AS1) | ||
| NR_038272.1:n.2043+18656C>T (TTN-AS1) | ||
| XM_011511729.1:c.84212G>A (TTN) | XP_011510031.1:p.Gly28071Glu | |
| XM_011511730.1:c.58106G>A (TTN) | XP_011510032.1:p.Gly19369Glu | |
| XM_011511731.1:c.57965G>A (TTN) | XP_011510033.1:p.Gly19322Glu | |
| XM_017004819.1:c.84008G>A (TTN) | XP_016860308.1:p.Gly28003Glu | |
| XM_017004820.1:c.79406G>A (TTN) | XP_016860309.1:p.Gly26469Glu | |
| XM_017004821.1:c.79403G>A (TTN) | XP_016860310.1:p.Gly26468Glu | |
| XM_017004822.1:c.76445G>A (TTN) | XP_016860311.1:p.Gly25482Glu | |
| XM_017004823.1:c.58061G>A (TTN) | XP_016860312.1:p.Gly19354Glu | |
| XM_024453094.1:c.79556G>A (TTN) | XP_024308862.1:p.Gly26519Glu | |
| XM_024453095.1:c.79553G>A (TTN) | XP_024308863.1:p.Gly26518Glu | |
| XM_024453096.1:c.78986G>A (TTN) | XP_024308864.1:p.Gly26329Glu | |
| XM_024453097.1:c.76328G>A (TTN) | XP_024308865.1:p.Gly25443Glu | |
| XM_024453098.1:c.76247G>A (TTN) | XP_024308866.1:p.Gly25416Glu | |
| XM_024453099.1:c.58010G>A (TTN) | XP_024308867.1:p.Gly19337Glu | |
| XM_024453100.1:c.47864G>A (TTN) | XP_024308868.1:p.Gly15955Glu |