Linked Data
ClinVar Variation Id:
180058
dbSNP Id:
rs727505319
gnomAD v3:
2-178542263-C-G
gnomAD v4:
2-178542263-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178542263C>G , CM000664.2:g.178542263C>G | GRCh38 |
| NC_000002.11:g.179406990C>G , CM000664.1:g.179406990C>G | GRCh37 |
| NC_000002.10:g.179115236C>G | NCBI36 |
| NG_011618.3:g.293540G>C , LRG_391:g.293540G>C | |
| NG_051363.1:g.24437C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89788+1G>C (TTN) | ENSP00000343764.6:n.89788+1G>C | |
| ENST00000342175.11:c.70873+1G>C (TTN) | ENSP00000340554.6:n.70873+1G>C | |
| ENST00000359218.10:c.70672+1G>C (TTN) | ENSP00000352154.5:n.70672+1G>C | |
| ENST00000342175.10:c.70873+1G>C (TTN) | ENSP00000340554.6:n.70873+1G>C | |
| ENST00000342992.10:c.89788+1G>C (TTN) | ENSP00000343764.6:n.89788+1G>C | |
| ENST00000359218.9:c.70672+1G>C (TTN) | ENSP00000352154.5:n.70672+1G>C | |
| ENST00000460472.6:c.70297+1G>C (TTN) | ENSP00000434586.1:n.70297+1G>C | |
| ENST00000589042.5:c.97492+1G>C (TTN) MANE Select | ENSP00000467141.1:n.97492+1G>C | |
| ENST00000591111.5:c.92569+1G>C (TTN) | ENSP00000465570.1:n.92569+1G>C | |
| ENST00000615779.4:c.92569+1G>C (TTN) | ENSP00000483597.1:n.92569+1G>C | |
| NM_001256850.1:c.92569+1G>C (TTN) | NP_001243779.1:n.92569+1G>C | |
| NM_001267550.2:c.97492+1G>C (TTN) MANE Select | NP_001254479.2:n.97492+1G>C | |
| NM_003319.4:c.70297+1G>C (TTN) | NP_003310.4:n.70297+1G>C | |
| NM_133378.4:c.89788+1G>C (TTN) | NP_596869.4:n.89788+1G>C | |
| NM_133432.3:c.70672+1G>C (TTN) | NP_597676.3:n.70672+1G>C | |
| NM_133437.4:c.70873+1G>C (TTN) | NP_597681.4:n.70873+1G>C | |
| NR_038271.1:n.446+18627C>G (TTN-AS1) | ||
| NR_038272.1:n.1945C>G (TTN-AS1) | ||
| XM_011511729.1:c.96589+1G>C (TTN) | XP_011510031.1:n.96589+1G>C | |
| XM_011511730.1:c.70483+1G>C (TTN) | XP_011510032.1:n.70483+1G>C | |
| XM_011511731.1:c.70342+1G>C (TTN) | XP_011510033.1:n.70342+1G>C | |
| XM_017004819.1:c.96385+1G>C (TTN) | XP_016860308.1:n.96385+1G>C | |
| XM_017004820.1:c.91783+1G>C (TTN) | XP_016860309.1:n.91783+1G>C | |
| XM_017004821.1:c.91780+1G>C (TTN) | XP_016860310.1:n.91780+1G>C | |
| XM_017004822.1:c.88822+1G>C (TTN) | XP_016860311.1:n.88822+1G>C | |
| XM_017004823.1:c.70438+1G>C (TTN) | XP_016860312.1:n.70438+1G>C | |
| XM_024453094.1:c.91933+1G>C (TTN) | XP_024308862.1:n.91933+1G>C | |
| XM_024453095.1:c.91930+1G>C (TTN) | XP_024308863.1:n.91930+1G>C | |
| XM_024453096.1:c.91363+1G>C (TTN) | XP_024308864.1:n.91363+1G>C | |
| XM_024453097.1:c.88705+1G>C (TTN) | XP_024308865.1:n.88705+1G>C | |
| XM_024453098.1:c.88624+1G>C (TTN) | XP_024308866.1:n.88624+1G>C | |
| XM_024453099.1:c.70387+1G>C (TTN) | XP_024308867.1:n.70387+1G>C | |
| XM_024453100.1:c.60241+1G>C (TTN) | XP_024308868.1:n.60241+1G>C |