Linked Data
ClinVar Variation Id:
228131
dbSNP Id:
rs758273663
ExAC:
2:179443447 A / G
gnomAD v2:
2-179443447-A-G
gnomAD v3:
2-178578720-A-G
gnomAD v4:
2-178578720-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178578720A>G , CM000664.2:g.178578720A>G | GRCh38 |
| NC_000002.11:g.179443447A>G , CM000664.1:g.179443447A>G | GRCh37 |
| NC_000002.10:g.179151693A>G | NCBI36 |
| NG_011618.3:g.257083T>C , LRG_391:g.257083T>C | |
| NG_051363.1:g.60894A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.60521-5T>C (TTN) | ENSP00000343764.6:n.60521-5T>C | |
| ENST00000342175.11:c.41606-5T>C (TTN) | ENSP00000340554.6:n.41606-5T>C | |
| ENST00000359218.10:c.41405-5T>C (TTN) | ENSP00000352154.5:n.41405-5T>C | |
| ENST00000342175.10:c.41606-5T>C (TTN) | ENSP00000340554.6:n.41606-5T>C | |
| ENST00000342992.10:c.60521-5T>C (TTN) | ENSP00000343764.6:n.60521-5T>C | |
| ENST00000359218.9:c.41405-5T>C (TTN) | ENSP00000352154.5:n.41405-5T>C | |
| ENST00000460472.6:c.41030-5T>C (TTN) | ENSP00000434586.1:n.41030-5T>C | |
| ENST00000589042.5:c.68225-5T>C (TTN) MANE Select | ENSP00000467141.1:n.68225-5T>C | |
| ENST00000591111.5:c.63302-5T>C (TTN) | ENSP00000465570.1:n.63302-5T>C | |
| ENST00000615779.4:c.63302-5T>C (TTN) | ENSP00000483597.1:n.63302-5T>C | |
| NM_001256850.1:c.63302-5T>C (TTN) | NP_001243779.1:n.63302-5T>C | |
| NM_001267550.2:c.68225-5T>C (TTN) MANE Select | NP_001254479.2:n.68225-5T>C | |
| NM_003319.4:c.41030-5T>C (TTN) | NP_003310.4:n.41030-5T>C | |
| NM_133378.4:c.60521-5T>C (TTN) | NP_596869.4:n.60521-5T>C | |
| NM_133432.3:c.41405-5T>C (TTN) | NP_597676.3:n.41405-5T>C | |
| NM_133437.4:c.41606-5T>C (TTN) | NP_597681.4:n.41606-5T>C | |
| NR_038271.1:n.596+7271A>G (TTN-AS1) | ||
| NR_038272.1:n.2044-3852A>G (TTN-AS1) | ||
| XM_011511729.1:c.67322-5T>C (TTN) | XP_011510031.1:n.67322-5T>C | |
| XM_011511730.1:c.41216-5T>C (TTN) | XP_011510032.1:n.41216-5T>C | |
| XM_011511731.1:c.41075-5T>C (TTN) | XP_011510033.1:n.41075-5T>C | |
| XM_017004819.1:c.67118-5T>C (TTN) | XP_016860308.1:n.67118-5T>C | |
| XM_017004820.1:c.62516-5T>C (TTN) | XP_016860309.1:n.62516-5T>C | |
| XM_017004821.1:c.62513-5T>C (TTN) | XP_016860310.1:n.62513-5T>C | |
| XM_017004822.1:c.59555-5T>C (TTN) | XP_016860311.1:n.59555-5T>C | |
| XM_017004823.1:c.41171-5T>C (TTN) | XP_016860312.1:n.41171-5T>C | |
| XM_024453094.1:c.62666-5T>C (TTN) | XP_024308862.1:n.62666-5T>C | |
| XM_024453095.1:c.62663-5T>C (TTN) | XP_024308863.1:n.62663-5T>C | |
| XM_024453096.1:c.62096-5T>C (TTN) | XP_024308864.1:n.62096-5T>C | |
| XM_024453097.1:c.59438-5T>C (TTN) | XP_024308865.1:n.59438-5T>C | |
| XM_024453098.1:c.59357-5T>C (TTN) | XP_024308866.1:n.59357-5T>C | |
| XM_024453099.1:c.41120-5T>C (TTN) | XP_024308867.1:n.41120-5T>C | |
| XM_024453100.1:c.30974-5T>C (TTN) | XP_024308868.1:n.30974-5T>C |