Linked Data
ClinVar Variation Id:
179752
dbSNP Id:
rs727505101
ExAC:
2:179456609 C / T
gnomAD v2:
2-179456609-C-T
gnomAD v3:
2-178591882-C-T
gnomAD v4:
2-178591882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178591882C>T , CM000664.2:g.178591882C>T | GRCh38 |
| NC_000002.11:g.179456609C>T , CM000664.1:g.179456609C>T | GRCh37 |
| NC_000002.10:g.179164855C>T | NCBI36 |
| NG_011618.3:g.243921G>A , LRG_391:g.243921G>A | |
| NG_051363.1:g.74056C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.52233G>A (TTN) | ENSP00000343764.6:p.Gly17411= | |
| ENST00000342175.11:c.33318G>A (TTN) | ENSP00000340554.6:p.Gly11106= | |
| ENST00000359218.10:c.33117G>A (TTN) | ENSP00000352154.5:p.Gly11039= | |
| ENST00000342175.10:c.33318G>A (TTN) | ENSP00000340554.6:p.Gly11106= | |
| ENST00000342992.10:c.52233G>A (TTN) | ENSP00000343764.6:p.Gly17411= | |
| ENST00000359218.9:c.33117G>A (TTN) | ENSP00000352154.5:p.Gly11039= | |
| ENST00000460472.6:c.32742G>A (TTN) | ENSP00000434586.1:p.Gly10914= | |
| ENST00000589042.5:c.59937G>A (TTN) MANE Select | ENSP00000467141.1:p.Gly19979= | |
| ENST00000591111.5:c.55014G>A (TTN) | ENSP00000465570.1:p.Gly18338= | |
| ENST00000615779.4:c.55014G>A (TTN) | ENSP00000483597.1:p.Gly18338= | |
| NM_001256850.1:c.55014G>A (TTN) | NP_001243779.1:p.Gly18338= | |
| NM_001267550.2:c.59937G>A (TTN) MANE Select | NP_001254479.2:p.Gly19979= | |
| NM_003319.4:c.32742G>A (TTN) | NP_003310.4:p.Gly10914= | |
| NM_133378.4:c.52233G>A (TTN) | NP_596869.4:p.Gly17411= | |
| NM_133432.3:c.33117G>A (TTN) | NP_597676.3:p.Gly11039= | |
| NM_133437.4:c.33318G>A (TTN) | NP_597681.4:p.Gly11106= | |
| NR_038271.1:n.597-5714C>T (TTN-AS1) | ||
| NR_038272.1:n.3364+568C>T (TTN-AS1) | ||
| XM_011511729.1:c.59034G>A (TTN) | XP_011510031.1:p.Gly19678= | |
| XM_011511730.1:c.32928G>A (TTN) | XP_011510032.1:p.Gly10976= | |
| XM_011511731.1:c.32787G>A (TTN) | XP_011510033.1:p.Gly10929= | |
| XM_017004819.1:c.58830G>A (TTN) | XP_016860308.1:p.Gly19610= | |
| XM_017004820.1:c.54228G>A (TTN) | XP_016860309.1:p.Gly18076= | |
| XM_017004821.1:c.54225G>A (TTN) | XP_016860310.1:p.Gly18075= | |
| XM_017004822.1:c.51267G>A (TTN) | XP_016860311.1:p.Gly17089= | |
| XM_017004823.1:c.32883G>A (TTN) | XP_016860312.1:p.Gly10961= | |
| XM_024453094.1:c.54378G>A (TTN) | XP_024308862.1:p.Gly18126= | |
| XM_024453095.1:c.54375G>A (TTN) | XP_024308863.1:p.Gly18125= | |
| XM_024453096.1:c.53808G>A (TTN) | XP_024308864.1:p.Gly17936= | |
| XM_024453097.1:c.51150G>A (TTN) | XP_024308865.1:p.Gly17050= | |
| XM_024453098.1:c.51069G>A (TTN) | XP_024308866.1:p.Gly17023= | |
| XM_024453099.1:c.32832G>A (TTN) | XP_024308867.1:p.Gly10944= | |
| XM_024453100.1:c.22686G>A (TTN) | XP_024308868.1:p.Gly7562= |