Linked Data
ClinVar Variation Id:
497034
dbSNP Id:
rs188919648
ExAC:
2:179441858 G / T
gnomAD v2:
2-179441858-G-T
gnomAD v3:
2-178577131-G-T
gnomAD v4:
2-178577131-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178577131G>T , CM000664.2:g.178577131G>T | GRCh38 |
| NC_000002.11:g.179441858G>T , CM000664.1:g.179441858G>T | GRCh37 |
| NC_000002.10:g.179150104G>T | NCBI36 |
| NG_011618.3:g.258672C>A , LRG_391:g.258672C>A | |
| NG_051363.1:g.59305G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.61500C>A (TTN) | ENSP00000343764.6:p.Gly20500= | |
| ENST00000342175.11:c.42585C>A (TTN) | ENSP00000340554.6:p.Gly14195= | |
| ENST00000359218.10:c.42384C>A (TTN) | ENSP00000352154.5:p.Gly14128= | |
| ENST00000342175.10:c.42585C>A (TTN) | ENSP00000340554.6:p.Gly14195= | |
| ENST00000342992.10:c.61500C>A (TTN) | ENSP00000343764.6:p.Gly20500= | |
| ENST00000359218.9:c.42384C>A (TTN) | ENSP00000352154.5:p.Gly14128= | |
| ENST00000460472.6:c.42009C>A (TTN) | ENSP00000434586.1:p.Gly14003= | |
| ENST00000589042.5:c.69204C>A (TTN) MANE Select | ENSP00000467141.1:p.Gly23068= | |
| ENST00000591111.5:c.64281C>A (TTN) | ENSP00000465570.1:p.Gly21427= | |
| ENST00000615779.4:c.64281C>A (TTN) | ENSP00000483597.1:p.Gly21427= | |
| NM_001256850.1:c.64281C>A (TTN) | NP_001243779.1:p.Gly21427= | |
| NM_001267550.2:c.69204C>A (TTN) MANE Select | NP_001254479.2:p.Gly23068= | |
| NM_003319.4:c.42009C>A (TTN) | NP_003310.4:p.Gly14003= | |
| NM_133378.4:c.61500C>A (TTN) | NP_596869.4:p.Gly20500= | |
| NM_133432.3:c.42384C>A (TTN) | NP_597676.3:p.Gly14128= | |
| NM_133437.4:c.42585C>A (TTN) | NP_597681.4:p.Gly14195= | |
| NR_038271.1:n.596+5682G>T (TTN-AS1) | ||
| NR_038272.1:n.2044-5441G>T (TTN-AS1) | ||
| XM_011511729.1:c.68301C>A (TTN) | XP_011510031.1:p.Gly22767= | |
| XM_011511730.1:c.42195C>A (TTN) | XP_011510032.1:p.Gly14065= | |
| XM_011511731.1:c.42054C>A (TTN) | XP_011510033.1:p.Gly14018= | |
| XM_017004819.1:c.68097C>A (TTN) | XP_016860308.1:p.Gly22699= | |
| XM_017004820.1:c.63495C>A (TTN) | XP_016860309.1:p.Gly21165= | |
| XM_017004821.1:c.63492C>A (TTN) | XP_016860310.1:p.Gly21164= | |
| XM_017004822.1:c.60534C>A (TTN) | XP_016860311.1:p.Gly20178= | |
| XM_017004823.1:c.42150C>A (TTN) | XP_016860312.1:p.Gly14050= | |
| XM_024453094.1:c.63645C>A (TTN) | XP_024308862.1:p.Gly21215= | |
| XM_024453095.1:c.63642C>A (TTN) | XP_024308863.1:p.Gly21214= | |
| XM_024453096.1:c.63075C>A (TTN) | XP_024308864.1:p.Gly21025= | |
| XM_024453097.1:c.60417C>A (TTN) | XP_024308865.1:p.Gly20139= | |
| XM_024453098.1:c.60336C>A (TTN) | XP_024308866.1:p.Gly20112= | |
| XM_024453099.1:c.42099C>A (TTN) | XP_024308867.1:p.Gly14033= | |
| XM_024453100.1:c.31953C>A (TTN) | XP_024308868.1:p.Gly10651= |