Linked Data
dbSNP Id:
rs745896785
ExAC:
2:179424184 C / G
gnomAD v2:
2-179424184-C-G
gnomAD v3:
2-178559457-C-G
gnomAD v4:
2-178559457-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559457C>G , CM000664.2:g.178559457C>G | GRCh38 |
| NC_000002.11:g.179424184C>G , CM000664.1:g.179424184C>G | GRCh37 |
| NC_000002.10:g.179132430C>G | NCBI36 |
| NG_011618.3:g.276346G>C , LRG_391:g.276346G>C | |
| NG_051363.1:g.41631C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.78971G>C (TTN) | ENSP00000343764.6:p.Trp26324Ser | |
| ENST00000342175.11:c.60056G>C (TTN) | ENSP00000340554.6:p.Trp20019Ser | |
| ENST00000359218.10:c.59855G>C (TTN) | ENSP00000352154.5:p.Trp19952Ser | |
| ENST00000342175.10:c.60056G>C (TTN) | ENSP00000340554.6:p.Trp20019Ser | |
| ENST00000342992.10:c.78971G>C (TTN) | ENSP00000343764.6:p.Trp26324Ser | |
| ENST00000359218.9:c.59855G>C (TTN) | ENSP00000352154.5:p.Trp19952Ser | |
| ENST00000460472.6:c.59480G>C (TTN) | ENSP00000434586.1:p.Trp19827Ser | |
| ENST00000589042.5:c.86675G>C (TTN) MANE Select | ENSP00000467141.1:p.Trp28892Ser | |
| ENST00000591111.5:c.81752G>C (TTN) | ENSP00000465570.1:p.Trp27251Ser | |
| ENST00000615779.4:c.81752G>C (TTN) | ENSP00000483597.1:p.Trp27251Ser | |
| NM_001256850.1:c.81752G>C (TTN) | NP_001243779.1:p.Trp27251Ser | |
| NM_001267550.2:c.86675G>C (TTN) MANE Select | NP_001254479.2:p.Trp28892Ser | |
| NM_003319.4:c.59480G>C (TTN) | NP_003310.4:p.Trp19827Ser | |
| NM_133378.4:c.78971G>C (TTN) | NP_596869.4:p.Trp26324Ser | |
| NM_133432.3:c.59855G>C (TTN) | NP_597676.3:p.Trp19952Ser | |
| NM_133437.4:c.60056G>C (TTN) | NP_597681.4:p.Trp20019Ser | |
| NR_038271.1:n.447-11843C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+17096C>G (TTN-AS1) | ||
| XM_011511729.1:c.85772G>C (TTN) | XP_011510031.1:p.Trp28591Ser | |
| XM_011511730.1:c.59666G>C (TTN) | XP_011510032.1:p.Trp19889Ser | |
| XM_011511731.1:c.59525G>C (TTN) | XP_011510033.1:p.Trp19842Ser | |
| XM_017004819.1:c.85568G>C (TTN) | XP_016860308.1:p.Trp28523Ser | |
| XM_017004820.1:c.80966G>C (TTN) | XP_016860309.1:p.Trp26989Ser | |
| XM_017004821.1:c.80963G>C (TTN) | XP_016860310.1:p.Trp26988Ser | |
| XM_017004822.1:c.78005G>C (TTN) | XP_016860311.1:p.Trp26002Ser | |
| XM_017004823.1:c.59621G>C (TTN) | XP_016860312.1:p.Trp19874Ser | |
| XM_024453094.1:c.81116G>C (TTN) | XP_024308862.1:p.Trp27039Ser | |
| XM_024453095.1:c.81113G>C (TTN) | XP_024308863.1:p.Trp27038Ser | |
| XM_024453096.1:c.80546G>C (TTN) | XP_024308864.1:p.Trp26849Ser | |
| XM_024453097.1:c.77888G>C (TTN) | XP_024308865.1:p.Trp25963Ser | |
| XM_024453098.1:c.77807G>C (TTN) | XP_024308866.1:p.Trp25936Ser | |
| XM_024453099.1:c.59570G>C (TTN) | XP_024308867.1:p.Trp19857Ser | |
| XM_024453100.1:c.49424G>C (TTN) | XP_024308868.1:p.Trp16475Ser |