Linked Data
ClinVar Variation Id:
202326
dbSNP Id:
rs200723435
ExAC:
2:179436346 C / G
gnomAD v2:
2-179436346-C-G
gnomAD v3:
2-178571619-C-G
gnomAD v4:
2-178571619-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178571619C>G , CM000664.2:g.178571619C>G | GRCh38 |
| NC_000002.11:g.179436346C>G , CM000664.1:g.179436346C>G | GRCh37 |
| NC_000002.10:g.179144592C>G | NCBI36 |
| NG_011618.3:g.264184G>C , LRG_391:g.264184G>C | |
| NG_051363.1:g.53793C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.66809G>C (TTN) | ENSP00000343764.6:p.Gly22270Ala | |
| ENST00000342175.11:c.47894G>C (TTN) | ENSP00000340554.6:p.Gly15965Ala | |
| ENST00000359218.10:c.47693G>C (TTN) | ENSP00000352154.5:p.Gly15898Ala | |
| ENST00000342175.10:c.47894G>C (TTN) | ENSP00000340554.6:p.Gly15965Ala | |
| ENST00000342992.10:c.66809G>C (TTN) | ENSP00000343764.6:p.Gly22270Ala | |
| ENST00000359218.9:c.47693G>C (TTN) | ENSP00000352154.5:p.Gly15898Ala | |
| ENST00000460472.6:c.47318G>C (TTN) | ENSP00000434586.1:p.Gly15773Ala | |
| ENST00000589042.5:c.74513G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly24838Ala | |
| ENST00000591111.5:c.69590G>C (TTN) | ENSP00000465570.1:p.Gly23197Ala | |
| ENST00000615779.4:c.69590G>C (TTN) | ENSP00000483597.1:p.Gly23197Ala | |
| NM_001256850.1:c.69590G>C (TTN) | NP_001243779.1:p.Gly23197Ala | |
| NM_001267550.2:c.74513G>C (TTN) MANE Select | NP_001254479.2:p.Gly24838Ala | |
| NM_003319.4:c.47318G>C (TTN) | NP_003310.4:p.Gly15773Ala | |
| NM_133378.4:c.66809G>C (TTN) | NP_596869.4:p.Gly22270Ala | |
| NM_133432.3:c.47693G>C (TTN) | NP_597676.3:p.Gly15898Ala | |
| NM_133437.4:c.47894G>C (TTN) | NP_597681.4:p.Gly15965Ala | |
| NR_038271.1:n.596+170C>G (TTN-AS1) | ||
| NR_038272.1:n.2044-10953C>G (TTN-AS1) | ||
| XM_011511729.1:c.73610G>C (TTN) | XP_011510031.1:p.Gly24537Ala | |
| XM_011511730.1:c.47504G>C (TTN) | XP_011510032.1:p.Gly15835Ala | |
| XM_011511731.1:c.47363G>C (TTN) | XP_011510033.1:p.Gly15788Ala | |
| XM_017004819.1:c.73406G>C (TTN) | XP_016860308.1:p.Gly24469Ala | |
| XM_017004820.1:c.68804G>C (TTN) | XP_016860309.1:p.Gly22935Ala | |
| XM_017004821.1:c.68801G>C (TTN) | XP_016860310.1:p.Gly22934Ala | |
| XM_017004822.1:c.65843G>C (TTN) | XP_016860311.1:p.Gly21948Ala | |
| XM_017004823.1:c.47459G>C (TTN) | XP_016860312.1:p.Gly15820Ala | |
| XM_024453094.1:c.68954G>C (TTN) | XP_024308862.1:p.Gly22985Ala | |
| XM_024453095.1:c.68951G>C (TTN) | XP_024308863.1:p.Gly22984Ala | |
| XM_024453096.1:c.68384G>C (TTN) | XP_024308864.1:p.Gly22795Ala | |
| XM_024453097.1:c.65726G>C (TTN) | XP_024308865.1:p.Gly21909Ala | |
| XM_024453098.1:c.65645G>C (TTN) | XP_024308866.1:p.Gly21882Ala | |
| XM_024453099.1:c.47408G>C (TTN) | XP_024308867.1:p.Gly15803Ala | |
| XM_024453100.1:c.37262G>C (TTN) | XP_024308868.1:p.Gly12421Ala |