Linked Data
ClinVar Variation Id:
283416
dbSNP Id:
rs886042619
gnomAD v2:
2-179406316-A-G
gnomAD v4:
2-178541589-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178541589A>G , CM000664.2:g.178541589A>G | GRCh38 |
| NC_000002.11:g.179406316A>G , CM000664.1:g.179406316A>G | GRCh37 |
| NC_000002.10:g.179114562A>G | NCBI36 |
| NG_011618.3:g.294214T>C , LRG_391:g.294214T>C | |
| NG_051363.1:g.23763A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.89789-5T>C (TTN) | ENSP00000343764.6:n.89789-5T>C | |
| ENST00000342175.11:c.70874-5T>C (TTN) | ENSP00000340554.6:n.70874-5T>C | |
| ENST00000359218.10:c.70673-5T>C (TTN) | ENSP00000352154.5:n.70673-5T>C | |
| ENST00000342175.10:c.70874-5T>C (TTN) | ENSP00000340554.6:n.70874-5T>C | |
| ENST00000342992.10:c.89789-5T>C (TTN) | ENSP00000343764.6:n.89789-5T>C | |
| ENST00000359218.9:c.70673-5T>C (TTN) | ENSP00000352154.5:n.70673-5T>C | |
| ENST00000460472.6:c.70298-5T>C (TTN) | ENSP00000434586.1:n.70298-5T>C | |
| ENST00000589042.5:c.97493-5T>C (TTN) MANE Select | ENSP00000467141.1:n.97493-5T>C | |
| ENST00000591111.5:c.92570-5T>C (TTN) | ENSP00000465570.1:n.92570-5T>C | |
| ENST00000615779.4:c.92570-5T>C (TTN) | ENSP00000483597.1:n.92570-5T>C | |
| NM_001256850.1:c.92570-5T>C (TTN) | NP_001243779.1:n.92570-5T>C | |
| NM_001267550.2:c.97493-5T>C (TTN) MANE Select | NP_001254479.2:n.97493-5T>C | |
| NM_003319.4:c.70298-5T>C (TTN) | NP_003310.4:n.70298-5T>C | |
| NM_133378.4:c.89789-5T>C (TTN) | NP_596869.4:n.89789-5T>C | |
| NM_133432.3:c.70673-5T>C (TTN) | NP_597676.3:n.70673-5T>C | |
| NM_133437.4:c.70874-5T>C (TTN) | NP_597681.4:n.70874-5T>C | |
| NR_038271.1:n.446+17953A>G (TTN-AS1) | ||
| NR_038272.1:n.1904-633A>G (TTN-AS1) | ||
| XM_011511729.1:c.96590-5T>C (TTN) | XP_011510031.1:n.96590-5T>C | |
| XM_011511730.1:c.70484-5T>C (TTN) | XP_011510032.1:n.70484-5T>C | |
| XM_011511731.1:c.70343-5T>C (TTN) | XP_011510033.1:n.70343-5T>C | |
| XM_017004819.1:c.96386-5T>C (TTN) | XP_016860308.1:n.96386-5T>C | |
| XM_017004820.1:c.91784-5T>C (TTN) | XP_016860309.1:n.91784-5T>C | |
| XM_017004821.1:c.91781-5T>C (TTN) | XP_016860310.1:n.91781-5T>C | |
| XM_017004822.1:c.88823-5T>C (TTN) | XP_016860311.1:n.88823-5T>C | |
| XM_017004823.1:c.70439-5T>C (TTN) | XP_016860312.1:n.70439-5T>C | |
| XM_024453094.1:c.91934-5T>C (TTN) | XP_024308862.1:n.91934-5T>C | |
| XM_024453095.1:c.91931-5T>C (TTN) | XP_024308863.1:n.91931-5T>C | |
| XM_024453096.1:c.91364-5T>C (TTN) | XP_024308864.1:n.91364-5T>C | |
| XM_024453097.1:c.88706-5T>C (TTN) | XP_024308865.1:n.88706-5T>C | |
| XM_024453098.1:c.88625-5T>C (TTN) | XP_024308866.1:n.88625-5T>C | |
| XM_024453099.1:c.70388-5T>C (TTN) | XP_024308867.1:n.70388-5T>C | |
| XM_024453100.1:c.60242-5T>C (TTN) | XP_024308868.1:n.60242-5T>C |