Linked Data
ClinVar Variation Id:
413211
ClinVar RCV Id:
RCV000466697
dbSNP Id:
rs1060503966
gnomAD v3:
2-178618179-A-C
gnomAD v4:
2-178618179-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178618179A>C , CM000664.2:g.178618179A>C | GRCh38 |
| NC_000002.11:g.179482906A>C , CM000664.1:g.179482906A>C | GRCh37 |
| NC_000002.10:g.179191151A>C | NCBI36 |
| NG_011618.3:g.217624T>G , LRG_391:g.217624T>G | |
| NG_051363.1:g.100353A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.39565+10T>G (TTN) | ENSP00000343764.6:n.39565+10T>G | |
| ENST00000342175.11:c.20650+10T>G (TTN) | ENSP00000340554.6:n.20650+10T>G | |
| ENST00000359218.10:c.20449+10T>G (TTN) | ENSP00000352154.5:n.20449+10T>G | |
| ENST00000342175.10:c.20650+10T>G (TTN) | ENSP00000340554.6:n.20650+10T>G | |
| ENST00000342992.10:c.39565+10T>G (TTN) | ENSP00000343764.6:n.39565+10T>G | |
| ENST00000359218.9:c.20449+10T>G (TTN) | ENSP00000352154.5:n.20449+10T>G | |
| ENST00000460472.6:c.20074+10T>G (TTN) | ENSP00000434586.1:n.20074+10T>G | |
| ENST00000589042.5:c.47269+10T>G (TTN) MANE Select | ENSP00000467141.1:n.47269+10T>G | |
| ENST00000591111.5:c.42346+10T>G (TTN) | ENSP00000465570.1:n.42346+10T>G | |
| ENST00000615779.4:c.42346+10T>G (TTN) | ENSP00000483597.1:n.42346+10T>G | |
| NM_001256850.1:c.42346+10T>G (TTN) | NP_001243779.1:n.42346+10T>G | |
| NM_001267550.2:c.47269+10T>G (TTN) MANE Select | NP_001254479.2:n.47269+10T>G | |
| NM_003319.4:c.20074+10T>G (TTN) | NP_003310.4:n.20074+10T>G | |
| NM_133378.4:c.39565+10T>G (TTN) | NP_596869.4:n.39565+10T>G | |
| NM_133432.3:c.20449+10T>G (TTN) | NP_597676.3:n.20449+10T>G | |
| NM_133437.4:c.20650+10T>G (TTN) | NP_597681.4:n.20650+10T>G | |
| NR_038271.1:n.1605-1574A>C (TTN-AS1) | ||
| XM_011511729.1:c.46366+10T>G (TTN) | XP_011510031.1:n.46366+10T>G | |
| XM_011511730.1:c.20260+10T>G (TTN) | XP_011510032.1:n.20260+10T>G | |
| XM_011511731.1:c.20119+10T>G (TTN) | XP_011510033.1:n.20119+10T>G | |
| XM_017004819.1:c.46162+10T>G (TTN) | XP_016860308.1:n.46162+10T>G | |
| XM_017004820.1:c.41560+10T>G (TTN) | XP_016860309.1:n.41560+10T>G | |
| XM_017004821.1:c.41557+10T>G (TTN) | XP_016860310.1:n.41557+10T>G | |
| XM_017004822.1:c.38599+10T>G (TTN) | XP_016860311.1:n.38599+10T>G | |
| XM_017004823.1:c.20215+10T>G (TTN) | XP_016860312.1:n.20215+10T>G | |
| XM_024453094.1:c.41710+10T>G (TTN) | XP_024308862.1:n.41710+10T>G | |
| XM_024453095.1:c.41707+10T>G (TTN) | XP_024308863.1:n.41707+10T>G | |
| XM_024453096.1:c.41140+10T>G (TTN) | XP_024308864.1:n.41140+10T>G | |
| XM_024453097.1:c.38482+10T>G (TTN) | XP_024308865.1:n.38482+10T>G | |
| XM_024453098.1:c.38401+10T>G (TTN) | XP_024308866.1:n.38401+10T>G | |
| XM_024453099.1:c.20164+10T>G (TTN) | XP_024308867.1:n.20164+10T>G | |
| XM_024453100.1:c.10018+10T>G (TTN) | XP_024308868.1:n.10018+10T>G |