Linked Data
ClinVar Variation Id:
165968
dbSNP Id:
rs727503600
ExAC:
2:179466439 T / C
gnomAD v2:
2-179466439-T-C
gnomAD v3:
2-178601712-T-C
gnomAD v4:
2-178601712-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178601712T>C , CM000664.2:g.178601712T>C | GRCh38 |
| NC_000002.11:g.179466439T>C , CM000664.1:g.179466439T>C | GRCh37 |
| NC_000002.10:g.179174684T>C | NCBI36 |
| NG_011618.3:g.234091A>G , LRG_391:g.234091A>G | |
| NG_051363.1:g.83886T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.47674A>G (TTN) | ENSP00000343764.6:p.Thr15892Ala | |
| ENST00000342175.11:c.28759A>G (TTN) | ENSP00000340554.6:p.Thr9587Ala | |
| ENST00000359218.10:c.28558A>G (TTN) | ENSP00000352154.5:p.Thr9520Ala | |
| ENST00000342175.10:c.28759A>G (TTN) | ENSP00000340554.6:p.Thr9587Ala | |
| ENST00000342992.10:c.47674A>G (TTN) | ENSP00000343764.6:p.Thr15892Ala | |
| ENST00000359218.9:c.28558A>G (TTN) | ENSP00000352154.5:p.Thr9520Ala | |
| ENST00000460472.6:c.28183A>G (TTN) | ENSP00000434586.1:p.Thr9395Ala | |
| ENST00000589042.5:c.55378A>G (TTN) MANE Select | ENSP00000467141.1:p.Thr18460Ala | |
| ENST00000591111.5:c.50455A>G (TTN) | ENSP00000465570.1:p.Thr16819Ala | |
| ENST00000615779.4:c.50455A>G (TTN) | ENSP00000483597.1:p.Thr16819Ala | |
| NM_001256850.1:c.50455A>G (TTN) | NP_001243779.1:p.Thr16819Ala | |
| NM_001267550.2:c.55378A>G (TTN) MANE Select | NP_001254479.2:p.Thr18460Ala | |
| NM_003319.4:c.28183A>G (TTN) | NP_003310.4:p.Thr9395Ala | |
| NM_133378.4:c.47674A>G (TTN) | NP_596869.4:p.Thr15892Ala | |
| NM_133432.3:c.28558A>G (TTN) | NP_597676.3:p.Thr9520Ala | |
| NM_133437.4:c.28759A>G (TTN) | NP_597681.4:p.Thr9587Ala | |
| NR_038271.1:n.682+4031T>C (TTN-AS1) | ||
| NR_038272.1:n.3917+1045T>C (TTN-AS1) | ||
| XM_011511729.1:c.54475A>G (TTN) | XP_011510031.1:p.Thr18159Ala | |
| XM_011511730.1:c.28369A>G (TTN) | XP_011510032.1:p.Thr9457Ala | |
| XM_011511731.1:c.28228A>G (TTN) | XP_011510033.1:p.Thr9410Ala | |
| XM_017004819.1:c.54271A>G (TTN) | XP_016860308.1:p.Thr18091Ala | |
| XM_017004820.1:c.49669A>G (TTN) | XP_016860309.1:p.Thr16557Ala | |
| XM_017004821.1:c.49666A>G (TTN) | XP_016860310.1:p.Thr16556Ala | |
| XM_017004822.1:c.46708A>G (TTN) | XP_016860311.1:p.Thr15570Ala | |
| XM_017004823.1:c.28324A>G (TTN) | XP_016860312.1:p.Thr9442Ala | |
| XM_024453094.1:c.49819A>G (TTN) | XP_024308862.1:p.Thr16607Ala | |
| XM_024453095.1:c.49816A>G (TTN) | XP_024308863.1:p.Thr16606Ala | |
| XM_024453096.1:c.49249A>G (TTN) | XP_024308864.1:p.Thr16417Ala | |
| XM_024453097.1:c.46591A>G (TTN) | XP_024308865.1:p.Thr15531Ala | |
| XM_024453098.1:c.46510A>G (TTN) | XP_024308866.1:p.Thr15504Ala | |
| XM_024453099.1:c.28273A>G (TTN) | XP_024308867.1:p.Thr9425Ala | |
| XM_024453100.1:c.18127A>G (TTN) | XP_024308868.1:p.Thr6043Ala |