Linked Data
ClinVar Variation Id:
1034511
ClinVar RCV Id:
RCV001337245
dbSNP Id:
rs754384143
ExAC:
2:179396917 C / G
gnomAD v2:
2-179396917-C-G
gnomAD v3:
2-178532190-C-G
gnomAD v4:
2-178532190-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532190C>G , CM000664.2:g.178532190C>G | GRCh38 |
| NC_000002.11:g.179396917C>G , CM000664.1:g.179396917C>G | GRCh37 |
| NC_000002.10:g.179105163C>G | NCBI36 |
| NG_011618.3:g.303613G>C , LRG_391:g.303613G>C | |
| NG_051363.1:g.14364C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96721G>C (TTN) | ENSP00000343764.6:p.Val32241Leu | |
| ENST00000342175.11:c.77806G>C (TTN) | ENSP00000340554.6:p.Val25936Leu | |
| ENST00000359218.10:c.77605G>C (TTN) | ENSP00000352154.5:p.Val25869Leu | |
| ENST00000342175.10:c.77806G>C (TTN) | ENSP00000340554.6:p.Val25936Leu | |
| ENST00000342992.10:c.96721G>C (TTN) | ENSP00000343764.6:p.Val32241Leu | |
| ENST00000359218.9:c.77605G>C (TTN) | ENSP00000352154.5:p.Val25869Leu | |
| ENST00000460472.6:c.77230G>C (TTN) | ENSP00000434586.1:p.Val25744Leu | |
| ENST00000589042.5:c.104425G>C (TTN) MANE Select | ENSP00000467141.1:p.Val34809Leu | |
| ENST00000591111.5:c.99502G>C (TTN) | ENSP00000465570.1:p.Val33168Leu | |
| ENST00000615779.4:c.99502G>C (TTN) | ENSP00000483597.1:p.Val33168Leu | |
| NM_001256850.1:c.99502G>C (TTN) | NP_001243779.1:p.Val33168Leu | |
| NM_001267550.2:c.104425G>C (TTN) MANE Select | NP_001254479.2:p.Val34809Leu | |
| NM_003319.4:c.77230G>C (TTN) | NP_003310.4:p.Val25744Leu | |
| NM_133378.4:c.96721G>C (TTN) | NP_596869.4:p.Val32241Leu | |
| NM_133432.3:c.77605G>C (TTN) | NP_597676.3:p.Val25869Leu | |
| NM_133437.4:c.77806G>C (TTN) | NP_597681.4:p.Val25936Leu | |
| NR_038271.1:n.446+8554C>G (TTN-AS1) | ||
| NR_038272.1:n.220-3542C>G (TTN-AS1) | ||
| XM_011511729.1:c.103522G>C (TTN) | XP_011510031.1:p.Val34508Leu | |
| XM_011511730.1:c.77416G>C (TTN) | XP_011510032.1:p.Val25806Leu | |
| XM_011511731.1:c.77275G>C (TTN) | XP_011510033.1:p.Val25759Leu | |
| XM_017004819.1:c.103318G>C (TTN) | XP_016860308.1:p.Val34440Leu | |
| XM_017004820.1:c.98716G>C (TTN) | XP_016860309.1:p.Val32906Leu | |
| XM_017004821.1:c.98713G>C (TTN) | XP_016860310.1:p.Val32905Leu | |
| XM_017004822.1:c.95755G>C (TTN) | XP_016860311.1:p.Val31919Leu | |
| XM_017004823.1:c.77371G>C (TTN) | XP_016860312.1:p.Val25791Leu | |
| XM_024453094.1:c.98866G>C (TTN) | XP_024308862.1:p.Val32956Leu | |
| XM_024453095.1:c.98863G>C (TTN) | XP_024308863.1:p.Val32955Leu | |
| XM_024453096.1:c.98296G>C (TTN) | XP_024308864.1:p.Val32766Leu | |
| XM_024453097.1:c.95638G>C (TTN) | XP_024308865.1:p.Val31880Leu | |
| XM_024453098.1:c.95557G>C (TTN) | XP_024308866.1:p.Val31853Leu | |
| XM_024453099.1:c.77320G>C (TTN) | XP_024308867.1:p.Val25774Leu | |
| XM_024453100.1:c.67174G>C (TTN) | XP_024308868.1:p.Val22392Leu |