Linked Data
ClinVar Variation Id:
466758
dbSNP Id:
rs368179478
ExAC:
2:179393874 A / G
gnomAD v2:
2-179393874-A-G
gnomAD v3:
2-178529147-A-G
gnomAD v4:
2-178529147-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178529147A>G , CM000664.2:g.178529147A>G | GRCh38 |
| NC_000002.11:g.179393874A>G , CM000664.1:g.179393874A>G | GRCh37 |
| NC_000002.10:g.179102120A>G | NCBI36 |
| NG_011618.3:g.306656T>C , LRG_391:g.306656T>C | |
| NG_051363.1:g.11321A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.98900T>C (TTN) | ENSP00000343764.6:p.Val32967Ala | |
| ENST00000342175.11:c.79985T>C (TTN) | ENSP00000340554.6:p.Val26662Ala | |
| ENST00000359218.10:c.79784T>C (TTN) | ENSP00000352154.5:p.Val26595Ala | |
| ENST00000342175.10:c.79985T>C (TTN) | ENSP00000340554.6:p.Val26662Ala | |
| ENST00000342992.10:c.98900T>C (TTN) | ENSP00000343764.6:p.Val32967Ala | |
| ENST00000359218.9:c.79784T>C (TTN) | ENSP00000352154.5:p.Val26595Ala | |
| ENST00000460472.6:c.79409T>C (TTN) | ENSP00000434586.1:p.Val26470Ala | |
| ENST00000589042.5:c.106604T>C (TTN) MANE Select | ENSP00000467141.1:p.Val35535Ala | |
| ENST00000591111.5:c.101681T>C (TTN) | ENSP00000465570.1:p.Val33894Ala | |
| ENST00000615779.4:c.101681T>C (TTN) | ENSP00000483597.1:p.Val33894Ala | |
| NM_001256850.1:c.101681T>C (TTN) | NP_001243779.1:p.Val33894Ala | |
| NM_001267550.2:c.106604T>C (TTN) MANE Select | NP_001254479.2:p.Val35535Ala | |
| NM_003319.4:c.79409T>C (TTN) | NP_003310.4:p.Val26470Ala | |
| NM_133378.4:c.98900T>C (TTN) | NP_596869.4:p.Val32967Ala | |
| NM_133432.3:c.79784T>C (TTN) | NP_597676.3:p.Val26595Ala | |
| NM_133437.4:c.79985T>C (TTN) | NP_597681.4:p.Val26662Ala | |
| NR_038271.1:n.446+5511A>G (TTN-AS1) | ||
| NR_038272.1:n.219+5511A>G (TTN-AS1) | ||
| XM_011511729.1:c.105701T>C (TTN) | XP_011510031.1:p.Val35234Ala | |
| XM_011511730.1:c.79595T>C (TTN) | XP_011510032.1:p.Val26532Ala | |
| XM_011511731.1:c.79454T>C (TTN) | XP_011510033.1:p.Val26485Ala | |
| XM_017004819.1:c.105497T>C (TTN) | XP_016860308.1:p.Val35166Ala | |
| XM_017004820.1:c.100895T>C (TTN) | XP_016860309.1:p.Val33632Ala | |
| XM_017004821.1:c.100892T>C (TTN) | XP_016860310.1:p.Val33631Ala | |
| XM_017004822.1:c.97934T>C (TTN) | XP_016860311.1:p.Val32645Ala | |
| XM_017004823.1:c.79550T>C (TTN) | XP_016860312.1:p.Val26517Ala | |
| XM_024453094.1:c.101045T>C (TTN) | XP_024308862.1:p.Val33682Ala | |
| XM_024453095.1:c.101042T>C (TTN) | XP_024308863.1:p.Val33681Ala | |
| XM_024453096.1:c.100475T>C (TTN) | XP_024308864.1:p.Val33492Ala | |
| XM_024453097.1:c.97817T>C (TTN) | XP_024308865.1:p.Val32606Ala | |
| XM_024453098.1:c.97736T>C (TTN) | XP_024308866.1:p.Val32579Ala | |
| XM_024453099.1:c.79499T>C (TTN) | XP_024308867.1:p.Val26500Ala | |
| XM_024453100.1:c.69353T>C (TTN) | XP_024308868.1:p.Val23118Ala |