Linked Data
ClinVar Variation Id:
497022
dbSNP Id:
rs751788327
ExAC:
2:179397044 A / G
gnomAD v2:
2-179397044-A-G
gnomAD v3:
2-178532317-A-G
gnomAD v4:
2-178532317-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178532317A>G , CM000664.2:g.178532317A>G | GRCh38 |
| NC_000002.11:g.179397044A>G , CM000664.1:g.179397044A>G | GRCh37 |
| NC_000002.10:g.179105290A>G | NCBI36 |
| NG_011618.3:g.303486T>C , LRG_391:g.303486T>C | |
| NG_051363.1:g.14491A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.96594T>C (TTN) | ENSP00000343764.6:p.Ala32198= | |
| ENST00000342175.11:c.77679T>C (TTN) | ENSP00000340554.6:p.Ala25893= | |
| ENST00000359218.10:c.77478T>C (TTN) | ENSP00000352154.5:p.Ala25826= | |
| ENST00000342175.10:c.77679T>C (TTN) | ENSP00000340554.6:p.Ala25893= | |
| ENST00000342992.10:c.96594T>C (TTN) | ENSP00000343764.6:p.Ala32198= | |
| ENST00000359218.9:c.77478T>C (TTN) | ENSP00000352154.5:p.Ala25826= | |
| ENST00000460472.6:c.77103T>C (TTN) | ENSP00000434586.1:p.Ala25701= | |
| ENST00000589042.5:c.104298T>C (TTN) MANE Select | ENSP00000467141.1:p.Ala34766= | |
| ENST00000591111.5:c.99375T>C (TTN) | ENSP00000465570.1:p.Ala33125= | |
| ENST00000615779.4:c.99375T>C (TTN) | ENSP00000483597.1:p.Ala33125= | |
| NM_001256850.1:c.99375T>C (TTN) | NP_001243779.1:p.Ala33125= | |
| NM_001267550.2:c.104298T>C (TTN) MANE Select | NP_001254479.2:p.Ala34766= | |
| NM_003319.4:c.77103T>C (TTN) | NP_003310.4:p.Ala25701= | |
| NM_133378.4:c.96594T>C (TTN) | NP_596869.4:p.Ala32198= | |
| NM_133432.3:c.77478T>C (TTN) | NP_597676.3:p.Ala25826= | |
| NM_133437.4:c.77679T>C (TTN) | NP_597681.4:p.Ala25893= | |
| NR_038271.1:n.446+8681A>G (TTN-AS1) | ||
| NR_038272.1:n.220-3415A>G (TTN-AS1) | ||
| XM_011511729.1:c.103395T>C (TTN) | XP_011510031.1:p.Ala34465= | |
| XM_011511730.1:c.77289T>C (TTN) | XP_011510032.1:p.Ala25763= | |
| XM_011511731.1:c.77148T>C (TTN) | XP_011510033.1:p.Ala25716= | |
| XM_017004819.1:c.103191T>C (TTN) | XP_016860308.1:p.Ala34397= | |
| XM_017004820.1:c.98589T>C (TTN) | XP_016860309.1:p.Ala32863= | |
| XM_017004821.1:c.98586T>C (TTN) | XP_016860310.1:p.Ala32862= | |
| XM_017004822.1:c.95628T>C (TTN) | XP_016860311.1:p.Ala31876= | |
| XM_017004823.1:c.77244T>C (TTN) | XP_016860312.1:p.Ala25748= | |
| XM_024453094.1:c.98739T>C (TTN) | XP_024308862.1:p.Ala32913= | |
| XM_024453095.1:c.98736T>C (TTN) | XP_024308863.1:p.Ala32912= | |
| XM_024453096.1:c.98169T>C (TTN) | XP_024308864.1:p.Ala32723= | |
| XM_024453097.1:c.95511T>C (TTN) | XP_024308865.1:p.Ala31837= | |
| XM_024453098.1:c.95430T>C (TTN) | XP_024308866.1:p.Ala31810= | |
| XM_024453099.1:c.77193T>C (TTN) | XP_024308867.1:p.Ala25731= | |
| XM_024453100.1:c.67047T>C (TTN) | XP_024308868.1:p.Ala22349= |