Linked Data
ClinVar Variation Id:
263662
dbSNP Id:
rs886038878
gnomAD v2:
2-179453336-T-G
gnomAD v3:
2-178588609-T-G
gnomAD v4:
2-178588609-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178588609T>G , CM000664.2:g.178588609T>G | GRCh38 |
| NC_000002.11:g.179453336T>G , CM000664.1:g.179453336T>G | GRCh37 |
| NC_000002.10:g.179161582T>G | NCBI36 |
| NG_011618.3:g.247194A>C , LRG_391:g.247194A>C | |
| NG_051363.1:g.70783T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.55412A>C (TTN) | ENSP00000343764.6:p.Lys18471Thr | |
| ENST00000342175.11:c.36497A>C (TTN) | ENSP00000340554.6:p.Lys12166Thr | |
| ENST00000359218.10:c.36296A>C (TTN) | ENSP00000352154.5:p.Lys12099Thr | |
| ENST00000342175.10:c.36497A>C (TTN) | ENSP00000340554.6:p.Lys12166Thr | |
| ENST00000342992.10:c.55412A>C (TTN) | ENSP00000343764.6:p.Lys18471Thr | |
| ENST00000359218.9:c.36296A>C (TTN) | ENSP00000352154.5:p.Lys12099Thr | |
| ENST00000460472.6:c.35921A>C (TTN) | ENSP00000434586.1:p.Lys11974Thr | |
| ENST00000589042.5:c.63116A>C (TTN) MANE Select | ENSP00000467141.1:p.Lys21039Thr | |
| ENST00000591111.5:c.58193A>C (TTN) | ENSP00000465570.1:p.Lys19398Thr | |
| ENST00000615779.4:c.58193A>C (TTN) | ENSP00000483597.1:p.Lys19398Thr | |
| NM_001256850.1:c.58193A>C (TTN) | NP_001243779.1:p.Lys19398Thr | |
| NM_001267550.2:c.63116A>C (TTN) MANE Select | NP_001254479.2:p.Lys21039Thr | |
| NM_003319.4:c.35921A>C (TTN) | NP_003310.4:p.Lys11974Thr | |
| NM_133378.4:c.55412A>C (TTN) | NP_596869.4:p.Lys18471Thr | |
| NM_133432.3:c.36296A>C (TTN) | NP_597676.3:p.Lys12099Thr | |
| NM_133437.4:c.36497A>C (TTN) | NP_597681.4:p.Lys12166Thr | |
| NR_038271.1:n.597-8987T>G (TTN-AS1) | ||
| NR_038272.1:n.3189-2530T>G (TTN-AS1) | ||
| XM_011511729.1:c.62213A>C (TTN) | XP_011510031.1:p.Lys20738Thr | |
| XM_011511730.1:c.36107A>C (TTN) | XP_011510032.1:p.Lys12036Thr | |
| XM_011511731.1:c.35966A>C (TTN) | XP_011510033.1:p.Lys11989Thr | |
| XM_017004819.1:c.62009A>C (TTN) | XP_016860308.1:p.Lys20670Thr | |
| XM_017004820.1:c.57407A>C (TTN) | XP_016860309.1:p.Lys19136Thr | |
| XM_017004821.1:c.57404A>C (TTN) | XP_016860310.1:p.Lys19135Thr | |
| XM_017004822.1:c.54446A>C (TTN) | XP_016860311.1:p.Lys18149Thr | |
| XM_017004823.1:c.36062A>C (TTN) | XP_016860312.1:p.Lys12021Thr | |
| XM_024453094.1:c.57557A>C (TTN) | XP_024308862.1:p.Lys19186Thr | |
| XM_024453095.1:c.57554A>C (TTN) | XP_024308863.1:p.Lys19185Thr | |
| XM_024453096.1:c.56987A>C (TTN) | XP_024308864.1:p.Lys18996Thr | |
| XM_024453097.1:c.54329A>C (TTN) | XP_024308865.1:p.Lys18110Thr | |
| XM_024453098.1:c.54248A>C (TTN) | XP_024308866.1:p.Lys18083Thr | |
| XM_024453099.1:c.36011A>C (TTN) | XP_024308867.1:p.Lys12004Thr | |
| XM_024453100.1:c.25865A>C (TTN) | XP_024308868.1:p.Lys8622Thr |