Linked Data
ClinVar Variation Id:
165736
dbSNP Id:
rs370541682
ExAC:
2:179413676 T / C
gnomAD v2:
2-179413676-T-C
gnomAD v3:
2-178548949-T-C
gnomAD v4:
2-178548949-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178548949T>C , CM000664.2:g.178548949T>C | GRCh38 |
| NC_000002.11:g.179413676T>C , CM000664.1:g.179413676T>C | GRCh37 |
| NC_000002.10:g.179121922T>C | NCBI36 |
| NG_011618.3:g.286854A>G , LRG_391:g.286854A>G | |
| NG_051363.1:g.31123T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.84973A>G (TTN) | ENSP00000343764.6:p.Lys28325Glu | |
| ENST00000342175.11:c.66058A>G (TTN) | ENSP00000340554.6:p.Lys22020Glu | |
| ENST00000359218.10:c.65857A>G (TTN) | ENSP00000352154.5:p.Lys21953Glu | |
| ENST00000342175.10:c.66058A>G (TTN) | ENSP00000340554.6:p.Lys22020Glu | |
| ENST00000342992.10:c.84973A>G (TTN) | ENSP00000343764.6:p.Lys28325Glu | |
| ENST00000359218.9:c.65857A>G (TTN) | ENSP00000352154.5:p.Lys21953Glu | |
| ENST00000460472.6:c.65482A>G (TTN) | ENSP00000434586.1:p.Lys21828Glu | |
| ENST00000589042.5:c.92677A>G (TTN) MANE Select | ENSP00000467141.1:p.Lys30893Glu | |
| ENST00000591111.5:c.87754A>G (TTN) | ENSP00000465570.1:p.Lys29252Glu | |
| ENST00000615779.4:c.87754A>G (TTN) | ENSP00000483597.1:p.Lys29252Glu | |
| NM_001256850.1:c.87754A>G (TTN) | NP_001243779.1:p.Lys29252Glu | |
| NM_001267550.2:c.92677A>G (TTN) MANE Select | NP_001254479.2:p.Lys30893Glu | |
| NM_003319.4:c.65482A>G (TTN) | NP_003310.4:p.Lys21828Glu | |
| NM_133378.4:c.84973A>G (TTN) | NP_596869.4:p.Lys28325Glu | |
| NM_133432.3:c.65857A>G (TTN) | NP_597676.3:p.Lys21953Glu | |
| NM_133437.4:c.66058A>G (TTN) | NP_597681.4:p.Lys22020Glu | |
| NR_038271.1:n.447-22351T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+6588T>C (TTN-AS1) | ||
| XM_011511729.1:c.91774A>G (TTN) | XP_011510031.1:p.Lys30592Glu | |
| XM_011511730.1:c.65668A>G (TTN) | XP_011510032.1:p.Lys21890Glu | |
| XM_011511731.1:c.65527A>G (TTN) | XP_011510033.1:p.Lys21843Glu | |
| XM_017004819.1:c.91570A>G (TTN) | XP_016860308.1:p.Lys30524Glu | |
| XM_017004820.1:c.86968A>G (TTN) | XP_016860309.1:p.Lys28990Glu | |
| XM_017004821.1:c.86965A>G (TTN) | XP_016860310.1:p.Lys28989Glu | |
| XM_017004822.1:c.84007A>G (TTN) | XP_016860311.1:p.Lys28003Glu | |
| XM_017004823.1:c.65623A>G (TTN) | XP_016860312.1:p.Lys21875Glu | |
| XM_024453094.1:c.87118A>G (TTN) | XP_024308862.1:p.Lys29040Glu | |
| XM_024453095.1:c.87115A>G (TTN) | XP_024308863.1:p.Lys29039Glu | |
| XM_024453096.1:c.86548A>G (TTN) | XP_024308864.1:p.Lys28850Glu | |
| XM_024453097.1:c.83890A>G (TTN) | XP_024308865.1:p.Lys27964Glu | |
| XM_024453098.1:c.83809A>G (TTN) | XP_024308866.1:p.Lys27937Glu | |
| XM_024453099.1:c.65572A>G (TTN) | XP_024308867.1:p.Lys21858Glu | |
| XM_024453100.1:c.55426A>G (TTN) | XP_024308868.1:p.Lys18476Glu |