Linked Data
ClinVar Variation Id:
1469597
dbSNP Id:
rs370094513
gnomAD v2:
2-179395288-A-G
gnomAD v3:
2-178530561-A-G
gnomAD v4:
2-178530561-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178530561A>G , CM000664.2:g.178530561A>G | GRCh38 |
| NC_000002.11:g.179395288A>G , CM000664.1:g.179395288A>G | GRCh37 |
| NC_000002.10:g.179103534A>G | NCBI36 |
| NG_011618.3:g.305242T>C , LRG_391:g.305242T>C | |
| NG_051363.1:g.12735A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98350T>C (TTN) | ENSP00000343764.6:p.Ser32784Pro | |
| ENST00000342175.11:c.79435T>C (TTN) | ENSP00000340554.6:p.Ser26479Pro | |
| ENST00000359218.10:c.79234T>C (TTN) | ENSP00000352154.5:p.Ser26412Pro | |
| ENST00000342175.10:c.79435T>C (TTN) | ENSP00000340554.6:p.Ser26479Pro | |
| ENST00000342992.10:c.98350T>C (TTN) | ENSP00000343764.6:p.Ser32784Pro | |
| ENST00000359218.9:c.79234T>C (TTN) | ENSP00000352154.5:p.Ser26412Pro | |
| ENST00000460472.6:c.78859T>C (TTN) | ENSP00000434586.1:p.Ser26287Pro | |
| ENST00000589042.5:c.106054T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser35352Pro | |
| ENST00000591111.5:c.101131T>C (TTN) | ENSP00000465570.1:p.Ser33711Pro | |
| ENST00000615779.4:c.101131T>C (TTN) | ENSP00000483597.1:p.Ser33711Pro | |
| NM_001256850.1:c.101131T>C (TTN) | NP_001243779.1:p.Ser33711Pro | |
| NM_001267550.2:c.106054T>C (TTN) MANE Select | NP_001254479.2:p.Ser35352Pro | |
| NM_003319.4:c.78859T>C (TTN) | NP_003310.4:p.Ser26287Pro | |
| NM_133378.4:c.98350T>C (TTN) | NP_596869.4:p.Ser32784Pro | |
| NM_133432.3:c.79234T>C (TTN) | NP_597676.3:p.Ser26412Pro | |
| NM_133437.4:c.79435T>C (TTN) | NP_597681.4:p.Ser26479Pro | |
| NR_038271.1:n.446+6925A>G (TTN-AS1) | ||
| NR_038272.1:n.220-5171A>G (TTN-AS1) | ||
| XM_011511729.1:c.105151T>C (TTN) | XP_011510031.1:p.Ser35051Pro | |
| XM_011511730.1:c.79045T>C (TTN) | XP_011510032.1:p.Ser26349Pro | |
| XM_011511731.1:c.78904T>C (TTN) | XP_011510033.1:p.Ser26302Pro | |
| XM_017004819.1:c.104947T>C (TTN) | XP_016860308.1:p.Ser34983Pro | |
| XM_017004820.1:c.100345T>C (TTN) | XP_016860309.1:p.Ser33449Pro | |
| XM_017004821.1:c.100342T>C (TTN) | XP_016860310.1:p.Ser33448Pro | |
| XM_017004822.1:c.97384T>C (TTN) | XP_016860311.1:p.Ser32462Pro | |
| XM_017004823.1:c.79000T>C (TTN) | XP_016860312.1:p.Ser26334Pro | |
| XM_024453094.1:c.100495T>C (TTN) | XP_024308862.1:p.Ser33499Pro | |
| XM_024453095.1:c.100492T>C (TTN) | XP_024308863.1:p.Ser33498Pro | |
| XM_024453096.1:c.99925T>C (TTN) | XP_024308864.1:p.Ser33309Pro | |
| XM_024453097.1:c.97267T>C (TTN) | XP_024308865.1:p.Ser32423Pro | |
| XM_024453098.1:c.97186T>C (TTN) | XP_024308866.1:p.Ser32396Pro | |
| XM_024453099.1:c.78949T>C (TTN) | XP_024308867.1:p.Ser26317Pro | |
| XM_024453100.1:c.68803T>C (TTN) | XP_024308868.1:p.Ser22935Pro |