Linked Data
ClinVar Variation Id:
288035
dbSNP Id:
rs754038742
ExAC:
2:179475991 T / A
gnomAD v2:
2-179475991-T-A
gnomAD v3:
2-178611264-T-A
gnomAD v4:
2-178611264-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178611264T>A , CM000664.2:g.178611264T>A | GRCh38 |
| NC_000002.11:g.179475991T>A , CM000664.1:g.179475991T>A | GRCh37 |
| NC_000002.10:g.179184236T>A | NCBI36 |
| NG_011618.3:g.224539A>T , LRG_391:g.224539A>T | |
| NG_051363.1:g.93438T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.43161A>T (TTN) | ENSP00000343764.6:p.Pro14387= | |
| ENST00000342175.11:c.24246A>T (TTN) | ENSP00000340554.6:p.Pro8082= | |
| ENST00000359218.10:c.24045A>T (TTN) | ENSP00000352154.5:p.Pro8015= | |
| ENST00000342175.10:c.24246A>T (TTN) | ENSP00000340554.6:p.Pro8082= | |
| ENST00000342992.10:c.43161A>T (TTN) | ENSP00000343764.6:p.Pro14387= | |
| ENST00000359218.9:c.24045A>T (TTN) | ENSP00000352154.5:p.Pro8015= | |
| ENST00000460472.6:c.23670A>T (TTN) | ENSP00000434586.1:p.Pro7890= | |
| ENST00000589042.5:c.50865A>T (TTN) MANE Select | ENSP00000467141.1:p.Pro16955= | |
| ENST00000591111.5:c.45942A>T (TTN) | ENSP00000465570.1:p.Pro15314= | |
| ENST00000615779.4:c.45942A>T (TTN) | ENSP00000483597.1:p.Pro15314= | |
| NM_001256850.1:c.45942A>T (TTN) | NP_001243779.1:p.Pro15314= | |
| NM_001267550.2:c.50865A>T (TTN) MANE Select | NP_001254479.2:p.Pro16955= | |
| NM_003319.4:c.23670A>T (TTN) | NP_003310.4:p.Pro7890= | |
| NM_133378.4:c.43161A>T (TTN) | NP_596869.4:p.Pro14387= | |
| NM_133432.3:c.24045A>T (TTN) | NP_597676.3:p.Pro8015= | |
| NM_133437.4:c.24246A>T (TTN) | NP_597681.4:p.Pro8082= | |
| NR_038271.1:n.783-2771T>A (TTN-AS1) | ||
| XM_011511729.1:c.49962A>T (TTN) | XP_011510031.1:p.Pro16654= | |
| XM_011511730.1:c.23856A>T (TTN) | XP_011510032.1:p.Pro7952= | |
| XM_011511731.1:c.23715A>T (TTN) | XP_011510033.1:p.Pro7905= | |
| XM_017004819.1:c.49758A>T (TTN) | XP_016860308.1:p.Pro16586= | |
| XM_017004820.1:c.45156A>T (TTN) | XP_016860309.1:p.Pro15052= | |
| XM_017004821.1:c.45153A>T (TTN) | XP_016860310.1:p.Pro15051= | |
| XM_017004822.1:c.42195A>T (TTN) | XP_016860311.1:p.Pro14065= | |
| XM_017004823.1:c.23811A>T (TTN) | XP_016860312.1:p.Pro7937= | |
| XM_024453094.1:c.45306A>T (TTN) | XP_024308862.1:p.Pro15102= | |
| XM_024453095.1:c.45303A>T (TTN) | XP_024308863.1:p.Pro15101= | |
| XM_024453096.1:c.44736A>T (TTN) | XP_024308864.1:p.Pro14912= | |
| XM_024453097.1:c.42078A>T (TTN) | XP_024308865.1:p.Pro14026= | |
| XM_024453098.1:c.41997A>T (TTN) | XP_024308866.1:p.Pro13999= | |
| XM_024453099.1:c.23760A>T (TTN) | XP_024308867.1:p.Pro7920= | |
| XM_024453100.1:c.13614A>T (TTN) | XP_024308868.1:p.Pro4538= |