Linked Data
ClinVar Variation Id:
47091
dbSNP Id:
rs370135374
ExAC:
2:179468924 A / G
gnomAD v2:
2-179468924-A-G
gnomAD v3:
2-178604197-A-G
gnomAD v4:
2-178604197-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604197A>G , CM000664.2:g.178604197A>G | GRCh38 |
| NC_000002.11:g.179468924A>G , CM000664.1:g.179468924A>G | GRCh37 |
| NC_000002.10:g.179177169A>G | NCBI36 |
| NG_011618.3:g.231606T>C , LRG_391:g.231606T>C | |
| NG_051363.1:g.86371A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46786T>C (TTN) | ENSP00000343764.6:p.Tyr15596His | |
| ENST00000342175.11:c.27871T>C (TTN) | ENSP00000340554.6:p.Tyr9291His | |
| ENST00000359218.10:c.27670T>C (TTN) | ENSP00000352154.5:p.Tyr9224His | |
| ENST00000342175.10:c.27871T>C (TTN) | ENSP00000340554.6:p.Tyr9291His | |
| ENST00000342992.10:c.46786T>C (TTN) | ENSP00000343764.6:p.Tyr15596His | |
| ENST00000359218.9:c.27670T>C (TTN) | ENSP00000352154.5:p.Tyr9224His | |
| ENST00000460472.6:c.27295T>C (TTN) | ENSP00000434586.1:p.Tyr9099His | |
| ENST00000589042.5:c.54490T>C (TTN) MANE Select | ENSP00000467141.1:p.Tyr18164His | |
| ENST00000591111.5:c.49567T>C (TTN) | ENSP00000465570.1:p.Tyr16523His | |
| ENST00000615779.4:c.49567T>C (TTN) | ENSP00000483597.1:p.Tyr16523His | |
| NM_001256850.1:c.49567T>C (TTN) | NP_001243779.1:p.Tyr16523His | |
| NM_001267550.2:c.54490T>C (TTN) MANE Select | NP_001254479.2:p.Tyr18164His | |
| NM_003319.4:c.27295T>C (TTN) | NP_003310.4:p.Tyr9099His | |
| NM_133378.4:c.46786T>C (TTN) | NP_596869.4:p.Tyr15596His | |
| NM_133432.3:c.27670T>C (TTN) | NP_597676.3:p.Tyr9224His | |
| NM_133437.4:c.27871T>C (TTN) | NP_597681.4:p.Tyr9291His | |
| NR_038271.1:n.683-3970A>G (TTN-AS1) | ||
| NR_038272.1:n.3918-534A>G (TTN-AS1) | ||
| XM_011511729.1:c.53587T>C (TTN) | XP_011510031.1:p.Tyr17863His | |
| XM_011511730.1:c.27481T>C (TTN) | XP_011510032.1:p.Tyr9161His | |
| XM_011511731.1:c.27340T>C (TTN) | XP_011510033.1:p.Tyr9114His | |
| XM_017004819.1:c.53383T>C (TTN) | XP_016860308.1:p.Tyr17795His | |
| XM_017004820.1:c.48781T>C (TTN) | XP_016860309.1:p.Tyr16261His | |
| XM_017004821.1:c.48778T>C (TTN) | XP_016860310.1:p.Tyr16260His | |
| XM_017004822.1:c.45820T>C (TTN) | XP_016860311.1:p.Tyr15274His | |
| XM_017004823.1:c.27436T>C (TTN) | XP_016860312.1:p.Tyr9146His | |
| XM_024453094.1:c.48931T>C (TTN) | XP_024308862.1:p.Tyr16311His | |
| XM_024453095.1:c.48928T>C (TTN) | XP_024308863.1:p.Tyr16310His | |
| XM_024453096.1:c.48361T>C (TTN) | XP_024308864.1:p.Tyr16121His | |
| XM_024453097.1:c.45703T>C (TTN) | XP_024308865.1:p.Tyr15235His | |
| XM_024453098.1:c.45622T>C (TTN) | XP_024308866.1:p.Tyr15208His | |
| XM_024453099.1:c.27385T>C (TTN) | XP_024308867.1:p.Tyr9129His | |
| XM_024453100.1:c.17239T>C (TTN) | XP_024308868.1:p.Tyr5747His |