Linked Data
ClinVar Variation Id:
332841
dbSNP Id:
rs554368924
ExAC:
2:179473176 A / C
gnomAD v2:
2-179473176-A-C
gnomAD v3:
2-178608449-A-C
gnomAD v4:
2-178608449-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178608449A>C , CM000664.2:g.178608449A>C | GRCh38 |
| NC_000002.11:g.179473176A>C , CM000664.1:g.179473176A>C | GRCh37 |
| NC_000002.10:g.179181421A>C | NCBI36 |
| NG_011618.3:g.227354T>G , LRG_391:g.227354T>G | |
| NG_051363.1:g.90623A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.44730T>G (TTN) | ENSP00000343764.6:p.Ile14910Met | |
| ENST00000342175.11:c.25815T>G (TTN) | ENSP00000340554.6:p.Ile8605Met | |
| ENST00000359218.10:c.25614T>G (TTN) | ENSP00000352154.5:p.Ile8538Met | |
| ENST00000342175.10:c.25815T>G (TTN) | ENSP00000340554.6:p.Ile8605Met | |
| ENST00000342992.10:c.44730T>G (TTN) | ENSP00000343764.6:p.Ile14910Met | |
| ENST00000359218.9:c.25614T>G (TTN) | ENSP00000352154.5:p.Ile8538Met | |
| ENST00000460472.6:c.25239T>G (TTN) | ENSP00000434586.1:p.Ile8413Met | |
| ENST00000589042.5:c.52434T>G (TTN) MANE Select | ENSP00000467141.1:p.Ile17478Met | |
| ENST00000591111.5:c.47511T>G (TTN) | ENSP00000465570.1:p.Ile15837Met | |
| ENST00000615779.4:c.47511T>G (TTN) | ENSP00000483597.1:p.Ile15837Met | |
| NM_001256850.1:c.47511T>G (TTN) | NP_001243779.1:p.Ile15837Met | |
| NM_001267550.2:c.52434T>G (TTN) MANE Select | NP_001254479.2:p.Ile17478Met | |
| NM_003319.4:c.25239T>G (TTN) | NP_003310.4:p.Ile8413Met | |
| NM_133378.4:c.44730T>G (TTN) | NP_596869.4:p.Ile14910Met | |
| NM_133432.3:c.25614T>G (TTN) | NP_597676.3:p.Ile8538Met | |
| NM_133437.4:c.25815T>G (TTN) | NP_597681.4:p.Ile8605Met | |
| NR_038271.1:n.782+183A>C (TTN-AS1) | ||
| XM_011511729.1:c.51531T>G (TTN) | XP_011510031.1:p.Ile17177Met | |
| XM_011511730.1:c.25425T>G (TTN) | XP_011510032.1:p.Ile8475Met | |
| XM_011511731.1:c.25284T>G (TTN) | XP_011510033.1:p.Ile8428Met | |
| XM_017004819.1:c.51327T>G (TTN) | XP_016860308.1:p.Ile17109Met | |
| XM_017004820.1:c.46725T>G (TTN) | XP_016860309.1:p.Ile15575Met | |
| XM_017004821.1:c.46722T>G (TTN) | XP_016860310.1:p.Ile15574Met | |
| XM_017004822.1:c.43764T>G (TTN) | XP_016860311.1:p.Ile14588Met | |
| XM_017004823.1:c.25380T>G (TTN) | XP_016860312.1:p.Ile8460Met | |
| XM_024453094.1:c.46875T>G (TTN) | XP_024308862.1:p.Ile15625Met | |
| XM_024453095.1:c.46872T>G (TTN) | XP_024308863.1:p.Ile15624Met | |
| XM_024453096.1:c.46305T>G (TTN) | XP_024308864.1:p.Ile15435Met | |
| XM_024453097.1:c.43647T>G (TTN) | XP_024308865.1:p.Ile14549Met | |
| XM_024453098.1:c.43566T>G (TTN) | XP_024308866.1:p.Ile14522Met | |
| XM_024453099.1:c.25329T>G (TTN) | XP_024308867.1:p.Ile8443Met | |
| XM_024453100.1:c.15183T>G (TTN) | XP_024308868.1:p.Ile5061Met |