Linked Data
ClinVar Variation Id:
179887
dbSNP Id:
rs727505196
ExAC:
2:179397684 A / G
gnomAD v2:
2-179397684-A-G
gnomAD v3:
2-178532957-A-G
gnomAD v4:
2-178532957-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532957A>G , CM000664.2:g.178532957A>G | GRCh38 |
| NC_000002.11:g.179397684A>G , CM000664.1:g.179397684A>G | GRCh37 |
| NC_000002.10:g.179105930A>G | NCBI36 |
| NG_011618.3:g.302846T>C , LRG_391:g.302846T>C | |
| NG_051363.1:g.15131A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.95954T>C (TTN) | ENSP00000343764.6:p.Ile31985Thr | |
| ENST00000342175.11:c.77039T>C (TTN) | ENSP00000340554.6:p.Ile25680Thr | |
| ENST00000359218.10:c.76838T>C (TTN) | ENSP00000352154.5:p.Ile25613Thr | |
| ENST00000342175.10:c.77039T>C (TTN) | ENSP00000340554.6:p.Ile25680Thr | |
| ENST00000342992.10:c.95954T>C (TTN) | ENSP00000343764.6:p.Ile31985Thr | |
| ENST00000359218.9:c.76838T>C (TTN) | ENSP00000352154.5:p.Ile25613Thr | |
| ENST00000460472.6:c.76463T>C (TTN) | ENSP00000434586.1:p.Ile25488Thr | |
| ENST00000589042.5:c.103658T>C (TTN) MANE Select | ENSP00000467141.1:p.Ile34553Thr | |
| ENST00000591111.5:c.98735T>C (TTN) | ENSP00000465570.1:p.Ile32912Thr | |
| ENST00000615779.4:c.98735T>C (TTN) | ENSP00000483597.1:p.Ile32912Thr | |
| NM_001256850.1:c.98735T>C (TTN) | NP_001243779.1:p.Ile32912Thr | |
| NM_001267550.2:c.103658T>C (TTN) MANE Select | NP_001254479.2:p.Ile34553Thr | |
| NM_003319.4:c.76463T>C (TTN) | NP_003310.4:p.Ile25488Thr | |
| NM_133378.4:c.95954T>C (TTN) | NP_596869.4:p.Ile31985Thr | |
| NM_133432.3:c.76838T>C (TTN) | NP_597676.3:p.Ile25613Thr | |
| NM_133437.4:c.77039T>C (TTN) | NP_597681.4:p.Ile25680Thr | |
| NR_038271.1:n.446+9321A>G (TTN-AS1) | ||
| NR_038272.1:n.220-2775A>G (TTN-AS1) | ||
| XM_011511729.1:c.102755T>C (TTN) | XP_011510031.1:p.Ile34252Thr | |
| XM_011511730.1:c.76649T>C (TTN) | XP_011510032.1:p.Ile25550Thr | |
| XM_011511731.1:c.76508T>C (TTN) | XP_011510033.1:p.Ile25503Thr | |
| XM_017004819.1:c.102551T>C (TTN) | XP_016860308.1:p.Ile34184Thr | |
| XM_017004820.1:c.97949T>C (TTN) | XP_016860309.1:p.Ile32650Thr | |
| XM_017004821.1:c.97946T>C (TTN) | XP_016860310.1:p.Ile32649Thr | |
| XM_017004822.1:c.94988T>C (TTN) | XP_016860311.1:p.Ile31663Thr | |
| XM_017004823.1:c.76604T>C (TTN) | XP_016860312.1:p.Ile25535Thr | |
| XM_024453094.1:c.98099T>C (TTN) | XP_024308862.1:p.Ile32700Thr | |
| XM_024453095.1:c.98096T>C (TTN) | XP_024308863.1:p.Ile32699Thr | |
| XM_024453096.1:c.97529T>C (TTN) | XP_024308864.1:p.Ile32510Thr | |
| XM_024453097.1:c.94871T>C (TTN) | XP_024308865.1:p.Ile31624Thr | |
| XM_024453098.1:c.94790T>C (TTN) | XP_024308866.1:p.Ile31597Thr | |
| XM_024453099.1:c.76553T>C (TTN) | XP_024308867.1:p.Ile25518Thr | |
| XM_024453100.1:c.66407T>C (TTN) | XP_024308868.1:p.Ile22136Thr |