Linked Data
ClinVar Variation Id:
178830
dbSNP Id:
rs727504474
ExAC:
2:179477810 A / G
gnomAD v2:
2-179477810-A-G
gnomAD v3:
2-178613083-A-G
gnomAD v4:
2-178613083-A-G
COSMIC:
COSN24403148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178613083A>G , CM000664.2:g.178613083A>G | GRCh38 |
| NC_000002.11:g.179477810A>G , CM000664.1:g.179477810A>G | GRCh37 |
| NC_000002.10:g.179186055A>G | NCBI36 |
| NG_011618.3:g.222720T>C , LRG_391:g.222720T>C | |
| NG_051363.1:g.95257A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.41945-11T>C (TTN) | ENSP00000343764.6:n.41945-11T>C | |
| ENST00000342175.11:c.23030-11T>C (TTN) | ENSP00000340554.6:n.23030-11T>C | |
| ENST00000359218.10:c.22829-11T>C (TTN) | ENSP00000352154.5:n.22829-11T>C | |
| ENST00000342175.10:c.23030-11T>C (TTN) | ENSP00000340554.6:n.23030-11T>C | |
| ENST00000342992.10:c.41945-11T>C (TTN) | ENSP00000343764.6:n.41945-11T>C | |
| ENST00000359218.9:c.22829-11T>C (TTN) | ENSP00000352154.5:n.22829-11T>C | |
| ENST00000460472.6:c.22454-11T>C (TTN) | ENSP00000434586.1:n.22454-11T>C | |
| ENST00000589042.5:c.49649-11T>C (TTN) MANE Select | ENSP00000467141.1:n.49649-11T>C | |
| ENST00000591111.5:c.44726-11T>C (TTN) | ENSP00000465570.1:n.44726-11T>C | |
| ENST00000615779.4:c.44726-11T>C (TTN) | ENSP00000483597.1:n.44726-11T>C | |
| NM_001256850.1:c.44726-11T>C (TTN) | NP_001243779.1:n.44726-11T>C | |
| NM_001267550.2:c.49649-11T>C (TTN) MANE Select | NP_001254479.2:n.49649-11T>C | |
| NM_003319.4:c.22454-11T>C (TTN) | NP_003310.4:n.22454-11T>C | |
| NM_133378.4:c.41945-11T>C (TTN) | NP_596869.4:n.41945-11T>C | |
| NM_133432.3:c.22829-11T>C (TTN) | NP_597676.3:n.22829-11T>C | |
| NM_133437.4:c.23030-11T>C (TTN) | NP_597681.4:n.23030-11T>C | |
| NR_038271.1:n.783-952A>G (TTN-AS1) | ||
| XM_011511729.1:c.48746-11T>C (TTN) | XP_011510031.1:n.48746-11T>C | |
| XM_011511730.1:c.22640-11T>C (TTN) | XP_011510032.1:n.22640-11T>C | |
| XM_011511731.1:c.22499-11T>C (TTN) | XP_011510033.1:n.22499-11T>C | |
| XM_017004819.1:c.48542-11T>C (TTN) | XP_016860308.1:n.48542-11T>C | |
| XM_017004820.1:c.43940-11T>C (TTN) | XP_016860309.1:n.43940-11T>C | |
| XM_017004821.1:c.43937-11T>C (TTN) | XP_016860310.1:n.43937-11T>C | |
| XM_017004822.1:c.40979-11T>C (TTN) | XP_016860311.1:n.40979-11T>C | |
| XM_017004823.1:c.22595-11T>C (TTN) | XP_016860312.1:n.22595-11T>C | |
| XM_024453094.1:c.44090-11T>C (TTN) | XP_024308862.1:n.44090-11T>C | |
| XM_024453095.1:c.44087-11T>C (TTN) | XP_024308863.1:n.44087-11T>C | |
| XM_024453096.1:c.43520-11T>C (TTN) | XP_024308864.1:n.43520-11T>C | |
| XM_024453097.1:c.40862-11T>C (TTN) | XP_024308865.1:n.40862-11T>C | |
| XM_024453098.1:c.40781-11T>C (TTN) | XP_024308866.1:n.40781-11T>C | |
| XM_024453099.1:c.22544-11T>C (TTN) | XP_024308867.1:n.22544-11T>C | |
| XM_024453100.1:c.12398-11T>C (TTN) | XP_024308868.1:n.12398-11T>C |