Linked Data
dbSNP Id:
rs758769330
ExAC:
2:179407988 C / G
gnomAD v2:
2-179407988-C-G
gnomAD v4:
2-178543261-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178543261C>G , CM000664.2:g.178543261C>G | GRCh38 |
| NC_000002.11:g.179407988C>G , CM000664.1:g.179407988C>G | GRCh37 |
| NC_000002.10:g.179116234C>G | NCBI36 |
| NG_011618.3:g.292542G>C , LRG_391:g.292542G>C | |
| NG_051363.1:g.25435C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89008G>C (TTN) | ENSP00000343764.6:p.Val29670Leu | |
| ENST00000342175.11:c.70093G>C (TTN) | ENSP00000340554.6:p.Val23365Leu | |
| ENST00000359218.10:c.69892G>C (TTN) | ENSP00000352154.5:p.Val23298Leu | |
| ENST00000342175.10:c.70093G>C (TTN) | ENSP00000340554.6:p.Val23365Leu | |
| ENST00000342992.10:c.89008G>C (TTN) | ENSP00000343764.6:p.Val29670Leu | |
| ENST00000359218.9:c.69892G>C (TTN) | ENSP00000352154.5:p.Val23298Leu | |
| ENST00000460472.6:c.69517G>C (TTN) | ENSP00000434586.1:p.Val23173Leu | |
| ENST00000589042.5:c.96712G>C (TTN) MANE Select | ENSP00000467141.1:p.Val32238Leu | |
| ENST00000591111.5:c.91789G>C (TTN) | ENSP00000465570.1:p.Val30597Leu | |
| ENST00000615779.4:c.91789G>C (TTN) | ENSP00000483597.1:p.Val30597Leu | |
| NM_001256850.1:c.91789G>C (TTN) | NP_001243779.1:p.Val30597Leu | |
| NM_001267550.2:c.96712G>C (TTN) MANE Select | NP_001254479.2:p.Val32238Leu | |
| NM_003319.4:c.69517G>C (TTN) | NP_003310.4:p.Val23173Leu | |
| NM_133378.4:c.89008G>C (TTN) | NP_596869.4:p.Val29670Leu | |
| NM_133432.3:c.69892G>C (TTN) | NP_597676.3:p.Val23298Leu | |
| NM_133437.4:c.70093G>C (TTN) | NP_597681.4:p.Val23365Leu | |
| NR_038271.1:n.446+19625C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+900C>G (TTN-AS1) | ||
| XM_011511729.1:c.95809G>C (TTN) | XP_011510031.1:p.Val31937Leu | |
| XM_011511730.1:c.69703G>C (TTN) | XP_011510032.1:p.Val23235Leu | |
| XM_011511731.1:c.69562G>C (TTN) | XP_011510033.1:p.Val23188Leu | |
| XM_017004819.1:c.95605G>C (TTN) | XP_016860308.1:p.Val31869Leu | |
| XM_017004820.1:c.91003G>C (TTN) | XP_016860309.1:p.Val30335Leu | |
| XM_017004821.1:c.91000G>C (TTN) | XP_016860310.1:p.Val30334Leu | |
| XM_017004822.1:c.88042G>C (TTN) | XP_016860311.1:p.Val29348Leu | |
| XM_017004823.1:c.69658G>C (TTN) | XP_016860312.1:p.Val23220Leu | |
| XM_024453094.1:c.91153G>C (TTN) | XP_024308862.1:p.Val30385Leu | |
| XM_024453095.1:c.91150G>C (TTN) | XP_024308863.1:p.Val30384Leu | |
| XM_024453096.1:c.90583G>C (TTN) | XP_024308864.1:p.Val30195Leu | |
| XM_024453097.1:c.87925G>C (TTN) | XP_024308865.1:p.Val29309Leu | |
| XM_024453098.1:c.87844G>C (TTN) | XP_024308866.1:p.Val29282Leu | |
| XM_024453099.1:c.69607G>C (TTN) | XP_024308867.1:p.Val23203Leu | |
| XM_024453100.1:c.59461G>C (TTN) | XP_024308868.1:p.Val19821Leu |