Linked Data
ClinVar Variation Id:
467221
dbSNP Id:
rs374138859
ExAC:
2:179477104 A / T
gnomAD v2:
2-179477104-A-T
gnomAD v3:
2-178612377-A-T
gnomAD v4:
2-178612377-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178612377A>T , CM000664.2:g.178612377A>T | GRCh38 |
| NC_000002.11:g.179477104A>T , CM000664.1:g.179477104A>T | GRCh37 |
| NC_000002.10:g.179185349A>T | NCBI36 |
| NG_011618.3:g.223426T>A , LRG_391:g.223426T>A | |
| NG_051363.1:g.94551A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.42444T>A (TTN) | ENSP00000343764.6:p.Thr14148= | |
| ENST00000342175.11:c.23529T>A (TTN) | ENSP00000340554.6:p.Thr7843= | |
| ENST00000359218.10:c.23328T>A (TTN) | ENSP00000352154.5:p.Thr7776= | |
| ENST00000342175.10:c.23529T>A (TTN) | ENSP00000340554.6:p.Thr7843= | |
| ENST00000342992.10:c.42444T>A (TTN) | ENSP00000343764.6:p.Thr14148= | |
| ENST00000359218.9:c.23328T>A (TTN) | ENSP00000352154.5:p.Thr7776= | |
| ENST00000460472.6:c.22953T>A (TTN) | ENSP00000434586.1:p.Thr7651= | |
| ENST00000589042.5:c.50148T>A (TTN) MANE Select | ENSP00000467141.1:p.Thr16716= | |
| ENST00000591111.5:c.45225T>A (TTN) | ENSP00000465570.1:p.Thr15075= | |
| ENST00000615779.4:c.45225T>A (TTN) | ENSP00000483597.1:p.Thr15075= | |
| NM_001256850.1:c.45225T>A (TTN) | NP_001243779.1:p.Thr15075= | |
| NM_001267550.2:c.50148T>A (TTN) MANE Select | NP_001254479.2:p.Thr16716= | |
| NM_003319.4:c.22953T>A (TTN) | NP_003310.4:p.Thr7651= | |
| NM_133378.4:c.42444T>A (TTN) | NP_596869.4:p.Thr14148= | |
| NM_133432.3:c.23328T>A (TTN) | NP_597676.3:p.Thr7776= | |
| NM_133437.4:c.23529T>A (TTN) | NP_597681.4:p.Thr7843= | |
| NR_038271.1:n.783-1658A>T (TTN-AS1) | ||
| XM_011511729.1:c.49245T>A (TTN) | XP_011510031.1:p.Thr16415= | |
| XM_011511730.1:c.23139T>A (TTN) | XP_011510032.1:p.Thr7713= | |
| XM_011511731.1:c.22998T>A (TTN) | XP_011510033.1:p.Thr7666= | |
| XM_017004819.1:c.49041T>A (TTN) | XP_016860308.1:p.Thr16347= | |
| XM_017004820.1:c.44439T>A (TTN) | XP_016860309.1:p.Thr14813= | |
| XM_017004821.1:c.44436T>A (TTN) | XP_016860310.1:p.Thr14812= | |
| XM_017004822.1:c.41478T>A (TTN) | XP_016860311.1:p.Thr13826= | |
| XM_017004823.1:c.23094T>A (TTN) | XP_016860312.1:p.Thr7698= | |
| XM_024453094.1:c.44589T>A (TTN) | XP_024308862.1:p.Thr14863= | |
| XM_024453095.1:c.44586T>A (TTN) | XP_024308863.1:p.Thr14862= | |
| XM_024453096.1:c.44019T>A (TTN) | XP_024308864.1:p.Thr14673= | |
| XM_024453097.1:c.41361T>A (TTN) | XP_024308865.1:p.Thr13787= | |
| XM_024453098.1:c.41280T>A (TTN) | XP_024308866.1:p.Thr13760= | |
| XM_024453099.1:c.23043T>A (TTN) | XP_024308867.1:p.Thr7681= | |
| XM_024453100.1:c.12897T>A (TTN) | XP_024308868.1:p.Thr4299= |