Linked Data
ClinVar Variation Id:
413133
dbSNP Id:
rs200121902
ExAC:
2:179478653 G / T
gnomAD v2:
2-179478653-G-T
gnomAD v3:
2-178613926-G-T
gnomAD v4:
2-178613926-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613926G>T , CM000664.2:g.178613926G>T | GRCh38 |
| NC_000002.11:g.179478653G>T , CM000664.1:g.179478653G>T | GRCh37 |
| NC_000002.10:g.179186898G>T | NCBI36 |
| NG_011618.3:g.221877C>A , LRG_391:g.221877C>A | |
| NG_051363.1:g.96100G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41653C>A (TTN) | ENSP00000343764.6:p.Pro13885Thr | |
| ENST00000342175.11:c.22738C>A (TTN) | ENSP00000340554.6:p.Pro7580Thr | |
| ENST00000359218.10:c.22537C>A (TTN) | ENSP00000352154.5:p.Pro7513Thr | |
| ENST00000342175.10:c.22738C>A (TTN) | ENSP00000340554.6:p.Pro7580Thr | |
| ENST00000342992.10:c.41653C>A (TTN) | ENSP00000343764.6:p.Pro13885Thr | |
| ENST00000359218.9:c.22537C>A (TTN) | ENSP00000352154.5:p.Pro7513Thr | |
| ENST00000460472.6:c.22162C>A (TTN) | ENSP00000434586.1:p.Pro7388Thr | |
| ENST00000589042.5:c.49357C>A (TTN) MANE Select | ENSP00000467141.1:p.Pro16453Thr | |
| ENST00000591111.5:c.44434C>A (TTN) | ENSP00000465570.1:p.Pro14812Thr | |
| ENST00000615779.4:c.44434C>A (TTN) | ENSP00000483597.1:p.Pro14812Thr | |
| NM_001256850.1:c.44434C>A (TTN) | NP_001243779.1:p.Pro14812Thr | |
| NM_001267550.2:c.49357C>A (TTN) MANE Select | NP_001254479.2:p.Pro16453Thr | |
| NM_003319.4:c.22162C>A (TTN) | NP_003310.4:p.Pro7388Thr | |
| NM_133378.4:c.41653C>A (TTN) | NP_596869.4:p.Pro13885Thr | |
| NM_133432.3:c.22537C>A (TTN) | NP_597676.3:p.Pro7513Thr | |
| NM_133437.4:c.22738C>A (TTN) | NP_597681.4:p.Pro7580Thr | |
| NR_038271.1:n.783-109G>T (TTN-AS1) | ||
| XM_011511729.1:c.48454C>A (TTN) | XP_011510031.1:p.Pro16152Thr | |
| XM_011511730.1:c.22348C>A (TTN) | XP_011510032.1:p.Pro7450Thr | |
| XM_011511731.1:c.22207C>A (TTN) | XP_011510033.1:p.Pro7403Thr | |
| XM_017004819.1:c.48250C>A (TTN) | XP_016860308.1:p.Pro16084Thr | |
| XM_017004820.1:c.43648C>A (TTN) | XP_016860309.1:p.Pro14550Thr | |
| XM_017004821.1:c.43645C>A (TTN) | XP_016860310.1:p.Pro14549Thr | |
| XM_017004822.1:c.40687C>A (TTN) | XP_016860311.1:p.Pro13563Thr | |
| XM_017004823.1:c.22303C>A (TTN) | XP_016860312.1:p.Pro7435Thr | |
| XM_024453094.1:c.43798C>A (TTN) | XP_024308862.1:p.Pro14600Thr | |
| XM_024453095.1:c.43795C>A (TTN) | XP_024308863.1:p.Pro14599Thr | |
| XM_024453096.1:c.43228C>A (TTN) | XP_024308864.1:p.Pro14410Thr | |
| XM_024453097.1:c.40570C>A (TTN) | XP_024308865.1:p.Pro13524Thr | |
| XM_024453098.1:c.40489C>A (TTN) | XP_024308866.1:p.Pro13497Thr | |
| XM_024453099.1:c.22252C>A (TTN) | XP_024308867.1:p.Pro7418Thr | |
| XM_024453100.1:c.12106C>A (TTN) | XP_024308868.1:p.Pro4036Thr |