Linked Data
ClinVar Variation Id:
1481795
dbSNP Id:
rs1245438198
gnomAD v2:
2-179396908-T-C
gnomAD v4:
2-178532181-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532181T>C , CM000664.2:g.178532181T>C | GRCh38 |
| NC_000002.11:g.179396908T>C , CM000664.1:g.179396908T>C | GRCh37 |
| NC_000002.10:g.179105154T>C | NCBI36 |
| NG_011618.3:g.303622A>G , LRG_391:g.303622A>G | |
| NG_051363.1:g.14355T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96730A>G (TTN) | ENSP00000343764.6:p.Ile32244Val | |
| ENST00000342175.11:c.77815A>G (TTN) | ENSP00000340554.6:p.Ile25939Val | |
| ENST00000359218.10:c.77614A>G (TTN) | ENSP00000352154.5:p.Ile25872Val | |
| ENST00000342175.10:c.77815A>G (TTN) | ENSP00000340554.6:p.Ile25939Val | |
| ENST00000342992.10:c.96730A>G (TTN) | ENSP00000343764.6:p.Ile32244Val | |
| ENST00000359218.9:c.77614A>G (TTN) | ENSP00000352154.5:p.Ile25872Val | |
| ENST00000460472.6:c.77239A>G (TTN) | ENSP00000434586.1:p.Ile25747Val | |
| ENST00000589042.5:c.104434A>G (TTN) MANE Select | ENSP00000467141.1:p.Ile34812Val | |
| ENST00000591111.5:c.99511A>G (TTN) | ENSP00000465570.1:p.Ile33171Val | |
| ENST00000615779.4:c.99511A>G (TTN) | ENSP00000483597.1:p.Ile33171Val | |
| NM_001256850.1:c.99511A>G (TTN) | NP_001243779.1:p.Ile33171Val | |
| NM_001267550.2:c.104434A>G (TTN) MANE Select | NP_001254479.2:p.Ile34812Val | |
| NM_003319.4:c.77239A>G (TTN) | NP_003310.4:p.Ile25747Val | |
| NM_133378.4:c.96730A>G (TTN) | NP_596869.4:p.Ile32244Val | |
| NM_133432.3:c.77614A>G (TTN) | NP_597676.3:p.Ile25872Val | |
| NM_133437.4:c.77815A>G (TTN) | NP_597681.4:p.Ile25939Val | |
| NR_038271.1:n.446+8545T>C (TTN-AS1) | ||
| NR_038272.1:n.220-3551T>C (TTN-AS1) | ||
| XM_011511729.1:c.103531A>G (TTN) | XP_011510031.1:p.Ile34511Val | |
| XM_011511730.1:c.77425A>G (TTN) | XP_011510032.1:p.Ile25809Val | |
| XM_011511731.1:c.77284A>G (TTN) | XP_011510033.1:p.Ile25762Val | |
| XM_017004819.1:c.103327A>G (TTN) | XP_016860308.1:p.Ile34443Val | |
| XM_017004820.1:c.98725A>G (TTN) | XP_016860309.1:p.Ile32909Val | |
| XM_017004821.1:c.98722A>G (TTN) | XP_016860310.1:p.Ile32908Val | |
| XM_017004822.1:c.95764A>G (TTN) | XP_016860311.1:p.Ile31922Val | |
| XM_017004823.1:c.77380A>G (TTN) | XP_016860312.1:p.Ile25794Val | |
| XM_024453094.1:c.98875A>G (TTN) | XP_024308862.1:p.Ile32959Val | |
| XM_024453095.1:c.98872A>G (TTN) | XP_024308863.1:p.Ile32958Val | |
| XM_024453096.1:c.98305A>G (TTN) | XP_024308864.1:p.Ile32769Val | |
| XM_024453097.1:c.95647A>G (TTN) | XP_024308865.1:p.Ile31883Val | |
| XM_024453098.1:c.95566A>G (TTN) | XP_024308866.1:p.Ile31856Val | |
| XM_024453099.1:c.77329A>G (TTN) | XP_024308867.1:p.Ile25777Val | |
| XM_024453100.1:c.67183A>G (TTN) | XP_024308868.1:p.Ile22395Val |