Linked Data
ClinVar Variation Id:
196648
dbSNP Id:
rs794727540
gnomAD v2:
2-179401007-A-G
gnomAD v3:
2-178536280-A-G
gnomAD v4:
2-178536280-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178536280A>G , CM000664.2:g.178536280A>G | GRCh38 |
| NC_000002.11:g.179401007A>G , CM000664.1:g.179401007A>G | GRCh37 |
| NC_000002.10:g.179109253A>G | NCBI36 |
| NG_011618.3:g.299523T>C , LRG_391:g.299523T>C | |
| NG_051363.1:g.18454A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.92763T>C (TTN) | ENSP00000343764.6:p.Ser30921= | |
| ENST00000342175.11:c.73848T>C (TTN) | ENSP00000340554.6:p.Ser24616= | |
| ENST00000359218.10:c.73647T>C (TTN) | ENSP00000352154.5:p.Ser24549= | |
| ENST00000342175.10:c.73848T>C (TTN) | ENSP00000340554.6:p.Ser24616= | |
| ENST00000342992.10:c.92763T>C (TTN) | ENSP00000343764.6:p.Ser30921= | |
| ENST00000359218.9:c.73647T>C (TTN) | ENSP00000352154.5:p.Ser24549= | |
| ENST00000460472.6:c.73272T>C (TTN) | ENSP00000434586.1:p.Ser24424= | |
| ENST00000589042.5:c.100467T>C (TTN) MANE Select | ENSP00000467141.1:p.Ser33489= | |
| ENST00000591111.5:c.95544T>C (TTN) | ENSP00000465570.1:p.Ser31848= | |
| ENST00000615779.4:c.95544T>C (TTN) | ENSP00000483597.1:p.Ser31848= | |
| NM_001256850.1:c.95544T>C (TTN) | NP_001243779.1:p.Ser31848= | |
| NM_001267550.2:c.100467T>C (TTN) MANE Select | NP_001254479.2:p.Ser33489= | |
| NM_003319.4:c.73272T>C (TTN) | NP_003310.4:p.Ser24424= | |
| NM_133378.4:c.92763T>C (TTN) | NP_596869.4:p.Ser30921= | |
| NM_133432.3:c.73647T>C (TTN) | NP_597676.3:p.Ser24549= | |
| NM_133437.4:c.73848T>C (TTN) | NP_597681.4:p.Ser24616= | |
| NR_038271.1:n.446+12644A>G (TTN-AS1) | ||
| NR_038272.1:n.316+452A>G (TTN-AS1) | ||
| XM_011511729.1:c.99564T>C (TTN) | XP_011510031.1:p.Ser33188= | |
| XM_011511730.1:c.73458T>C (TTN) | XP_011510032.1:p.Ser24486= | |
| XM_011511731.1:c.73317T>C (TTN) | XP_011510033.1:p.Ser24439= | |
| XM_017004819.1:c.99360T>C (TTN) | XP_016860308.1:p.Ser33120= | |
| XM_017004820.1:c.94758T>C (TTN) | XP_016860309.1:p.Ser31586= | |
| XM_017004821.1:c.94755T>C (TTN) | XP_016860310.1:p.Ser31585= | |
| XM_017004822.1:c.91797T>C (TTN) | XP_016860311.1:p.Ser30599= | |
| XM_017004823.1:c.73413T>C (TTN) | XP_016860312.1:p.Ser24471= | |
| XM_024453094.1:c.94908T>C (TTN) | XP_024308862.1:p.Ser31636= | |
| XM_024453095.1:c.94905T>C (TTN) | XP_024308863.1:p.Ser31635= | |
| XM_024453096.1:c.94338T>C (TTN) | XP_024308864.1:p.Ser31446= | |
| XM_024453097.1:c.91680T>C (TTN) | XP_024308865.1:p.Ser30560= | |
| XM_024453098.1:c.91599T>C (TTN) | XP_024308866.1:p.Ser30533= | |
| XM_024453099.1:c.73362T>C (TTN) | XP_024308867.1:p.Ser24454= | |
| XM_024453100.1:c.63216T>C (TTN) | XP_024308868.1:p.Ser21072= |