Linked Data
ClinVar Variation Id:
514479
dbSNP Id:
rs201512527
gnomAD v3:
2-178571237-T-C
gnomAD v4:
2-178571237-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571237T>C , CM000664.2:g.178571237T>C | GRCh38 |
| NC_000002.11:g.179435964T>C , CM000664.1:g.179435964T>C | GRCh37 |
| NC_000002.10:g.179144210T>C | NCBI36 |
| NG_011618.3:g.264566A>G , LRG_391:g.264566A>G | |
| NG_051363.1:g.53411T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67191A>G (TTN) | ENSP00000343764.6:p.Gln22397= | |
| ENST00000342175.11:c.48276A>G (TTN) | ENSP00000340554.6:p.Gln16092= | |
| ENST00000359218.10:c.48075A>G (TTN) | ENSP00000352154.5:p.Gln16025= | |
| ENST00000342175.10:c.48276A>G (TTN) | ENSP00000340554.6:p.Gln16092= | |
| ENST00000342992.10:c.67191A>G (TTN) | ENSP00000343764.6:p.Gln22397= | |
| ENST00000359218.9:c.48075A>G (TTN) | ENSP00000352154.5:p.Gln16025= | |
| ENST00000460472.6:c.47700A>G (TTN) | ENSP00000434586.1:p.Gln15900= | |
| ENST00000589042.5:c.74895A>G (TTN) MANE Select | ENSP00000467141.1:p.Gln24965= | |
| ENST00000591111.5:c.69972A>G (TTN) | ENSP00000465570.1:p.Gln23324= | |
| ENST00000615779.4:c.69972A>G (TTN) | ENSP00000483597.1:p.Gln23324= | |
| NM_001256850.1:c.69972A>G (TTN) | NP_001243779.1:p.Gln23324= | |
| NM_001267550.2:c.74895A>G (TTN) MANE Select | NP_001254479.2:p.Gln24965= | |
| NM_003319.4:c.47700A>G (TTN) | NP_003310.4:p.Gln15900= | |
| NM_133378.4:c.67191A>G (TTN) | NP_596869.4:p.Gln22397= | |
| NM_133432.3:c.48075A>G (TTN) | NP_597676.3:p.Gln16025= | |
| NM_133437.4:c.48276A>G (TTN) | NP_597681.4:p.Gln16092= | |
| NR_038271.1:n.447-63T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-11335T>C (TTN-AS1) | ||
| XM_011511729.1:c.73992A>G (TTN) | XP_011510031.1:p.Gln24664= | |
| XM_011511730.1:c.47886A>G (TTN) | XP_011510032.1:p.Gln15962= | |
| XM_011511731.1:c.47745A>G (TTN) | XP_011510033.1:p.Gln15915= | |
| XM_017004819.1:c.73788A>G (TTN) | XP_016860308.1:p.Gln24596= | |
| XM_017004820.1:c.69186A>G (TTN) | XP_016860309.1:p.Gln23062= | |
| XM_017004821.1:c.69183A>G (TTN) | XP_016860310.1:p.Gln23061= | |
| XM_017004822.1:c.66225A>G (TTN) | XP_016860311.1:p.Gln22075= | |
| XM_017004823.1:c.47841A>G (TTN) | XP_016860312.1:p.Gln15947= | |
| XM_024453094.1:c.69336A>G (TTN) | XP_024308862.1:p.Gln23112= | |
| XM_024453095.1:c.69333A>G (TTN) | XP_024308863.1:p.Gln23111= | |
| XM_024453096.1:c.68766A>G (TTN) | XP_024308864.1:p.Gln22922= | |
| XM_024453097.1:c.66108A>G (TTN) | XP_024308865.1:p.Gln22036= | |
| XM_024453098.1:c.66027A>G (TTN) | XP_024308866.1:p.Gln22009= | |
| XM_024453099.1:c.47790A>G (TTN) | XP_024308867.1:p.Gln15930= | |
| XM_024453100.1:c.37644A>G (TTN) | XP_024308868.1:p.Gln12548= |