Linked Data
ClinVar Variation Id:
466738
dbSNP Id:
rs771741670
ExAC:
2:179395929 A / G
gnomAD v2:
2-179395929-A-G
gnomAD v3:
2-178531202-A-G
gnomAD v4:
2-178531202-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531202A>G , CM000664.2:g.178531202A>G | GRCh38 |
| NC_000002.11:g.179395929A>G , CM000664.1:g.179395929A>G | GRCh37 |
| NC_000002.10:g.179104175A>G | NCBI36 |
| NG_011618.3:g.304601T>C , LRG_391:g.304601T>C | |
| NG_051363.1:g.13376A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97709T>C (TTN) | ENSP00000343764.6:p.Met32570Thr | |
| ENST00000342175.11:c.78794T>C (TTN) | ENSP00000340554.6:p.Met26265Thr | |
| ENST00000359218.10:c.78593T>C (TTN) | ENSP00000352154.5:p.Met26198Thr | |
| ENST00000342175.10:c.78794T>C (TTN) | ENSP00000340554.6:p.Met26265Thr | |
| ENST00000342992.10:c.97709T>C (TTN) | ENSP00000343764.6:p.Met32570Thr | |
| ENST00000359218.9:c.78593T>C (TTN) | ENSP00000352154.5:p.Met26198Thr | |
| ENST00000460472.6:c.78218T>C (TTN) | ENSP00000434586.1:p.Met26073Thr | |
| ENST00000589042.5:c.105413T>C (TTN) MANE Select | ENSP00000467141.1:p.Met35138Thr | |
| ENST00000591111.5:c.100490T>C (TTN) | ENSP00000465570.1:p.Met33497Thr | |
| ENST00000615779.4:c.100490T>C (TTN) | ENSP00000483597.1:p.Met33497Thr | |
| NM_001256850.1:c.100490T>C (TTN) | NP_001243779.1:p.Met33497Thr | |
| NM_001267550.2:c.105413T>C (TTN) MANE Select | NP_001254479.2:p.Met35138Thr | |
| NM_003319.4:c.78218T>C (TTN) | NP_003310.4:p.Met26073Thr | |
| NM_133378.4:c.97709T>C (TTN) | NP_596869.4:p.Met32570Thr | |
| NM_133432.3:c.78593T>C (TTN) | NP_597676.3:p.Met26198Thr | |
| NM_133437.4:c.78794T>C (TTN) | NP_597681.4:p.Met26265Thr | |
| NR_038271.1:n.446+7566A>G (TTN-AS1) | ||
| NR_038272.1:n.220-4530A>G (TTN-AS1) | ||
| XM_011511729.1:c.104510T>C (TTN) | XP_011510031.1:p.Met34837Thr | |
| XM_011511730.1:c.78404T>C (TTN) | XP_011510032.1:p.Met26135Thr | |
| XM_011511731.1:c.78263T>C (TTN) | XP_011510033.1:p.Met26088Thr | |
| XM_017004819.1:c.104306T>C (TTN) | XP_016860308.1:p.Met34769Thr | |
| XM_017004820.1:c.99704T>C (TTN) | XP_016860309.1:p.Met33235Thr | |
| XM_017004821.1:c.99701T>C (TTN) | XP_016860310.1:p.Met33234Thr | |
| XM_017004822.1:c.96743T>C (TTN) | XP_016860311.1:p.Met32248Thr | |
| XM_017004823.1:c.78359T>C (TTN) | XP_016860312.1:p.Met26120Thr | |
| XM_024453094.1:c.99854T>C (TTN) | XP_024308862.1:p.Met33285Thr | |
| XM_024453095.1:c.99851T>C (TTN) | XP_024308863.1:p.Met33284Thr | |
| XM_024453096.1:c.99284T>C (TTN) | XP_024308864.1:p.Met33095Thr | |
| XM_024453097.1:c.96626T>C (TTN) | XP_024308865.1:p.Met32209Thr | |
| XM_024453098.1:c.96545T>C (TTN) | XP_024308866.1:p.Met32182Thr | |
| XM_024453099.1:c.78308T>C (TTN) | XP_024308867.1:p.Met26103Thr | |
| XM_024453100.1:c.68162T>C (TTN) | XP_024308868.1:p.Met22721Thr |