Linked Data
ClinVar Variation Id:
392697
dbSNP Id:
rs756824434
ExAC:
2:179439192 A / G
gnomAD v2:
2-179439192-A-G
gnomAD v3:
2-178574465-A-G
gnomAD v4:
2-178574465-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178574465A>G , CM000664.2:g.178574465A>G | GRCh38 |
| NC_000002.11:g.179439192A>G , CM000664.1:g.179439192A>G | GRCh37 |
| NC_000002.10:g.179147438A>G | NCBI36 |
| NG_011618.3:g.261338T>C , LRG_391:g.261338T>C | |
| NG_051363.1:g.56639A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.63963T>C (TTN) | ENSP00000343764.6:p.Ser21321= | |
| ENST00000342175.11:c.45048T>C (TTN) | ENSP00000340554.6:p.Ser15016= | |
| ENST00000359218.10:c.44847T>C (TTN) | ENSP00000352154.5:p.Ser14949= | |
| ENST00000342175.10:c.45048T>C (TTN) | ENSP00000340554.6:p.Ser15016= | |
| ENST00000342992.10:c.63963T>C (TTN) | ENSP00000343764.6:p.Ser21321= | |
| ENST00000359218.9:c.44847T>C (TTN) | ENSP00000352154.5:p.Ser14949= | |
| ENST00000460472.6:c.44472T>C (TTN) | ENSP00000434586.1:p.Ser14824= | |
| ENST00000589042.5:c.71667T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser23889= | |
| ENST00000591111.5:c.66744T>C (TTN) | ENSP00000465570.1:p.Ser22248= | |
| ENST00000615779.4:c.66744T>C (TTN) | ENSP00000483597.1:p.Ser22248= | |
| NM_001256850.1:c.66744T>C (TTN) | NP_001243779.1:p.Ser22248= | |
| NM_001267550.2:c.71667T>C (TTN) MANE Select | NP_001254479.2:p.Ser23889= | |
| NM_003319.4:c.44472T>C (TTN) | NP_003310.4:p.Ser14824= | |
| NM_133378.4:c.63963T>C (TTN) | NP_596869.4:p.Ser21321= | |
| NM_133432.3:c.44847T>C (TTN) | NP_597676.3:p.Ser14949= | |
| NM_133437.4:c.45048T>C (TTN) | NP_597681.4:p.Ser15016= | |
| NR_038271.1:n.596+3016A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-8107A>G (TTN-AS1) | ||
| XM_011511729.1:c.70764T>C (TTN) | XP_011510031.1:p.Ser23588= | |
| XM_011511730.1:c.44658T>C (TTN) | XP_011510032.1:p.Ser14886= | |
| XM_011511731.1:c.44517T>C (TTN) | XP_011510033.1:p.Ser14839= | |
| XM_017004819.1:c.70560T>C (TTN) | XP_016860308.1:p.Ser23520= | |
| XM_017004820.1:c.65958T>C (TTN) | XP_016860309.1:p.Ser21986= | |
| XM_017004821.1:c.65955T>C (TTN) | XP_016860310.1:p.Ser21985= | |
| XM_017004822.1:c.62997T>C (TTN) | XP_016860311.1:p.Ser20999= | |
| XM_017004823.1:c.44613T>C (TTN) | XP_016860312.1:p.Ser14871= | |
| XM_024453094.1:c.66108T>C (TTN) | XP_024308862.1:p.Ser22036= | |
| XM_024453095.1:c.66105T>C (TTN) | XP_024308863.1:p.Ser22035= | |
| XM_024453096.1:c.65538T>C (TTN) | XP_024308864.1:p.Ser21846= | |
| XM_024453097.1:c.62880T>C (TTN) | XP_024308865.1:p.Ser20960= | |
| XM_024453098.1:c.62799T>C (TTN) | XP_024308866.1:p.Ser20933= | |
| XM_024453099.1:c.44562T>C (TTN) | XP_024308867.1:p.Ser14854= | |
| XM_024453100.1:c.34416T>C (TTN) | XP_024308868.1:p.Ser11472= |