Linked Data
ClinVar Variation Id:
507774
dbSNP Id:
rs1010541689
gnomAD v2:
2-179424035-T-C
gnomAD v3:
2-178559308-T-C
gnomAD v4:
2-178559308-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178559308T>C , CM000664.2:g.178559308T>C | GRCh38 |
| NC_000002.11:g.179424035T>C , CM000664.1:g.179424035T>C | GRCh37 |
| NC_000002.10:g.179132281T>C | NCBI36 |
| NG_011618.3:g.276495A>G , LRG_391:g.276495A>G | |
| NG_051363.1:g.41482T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.79117+3A>G (TTN) | ENSP00000343764.6:n.79117+3A>G | |
| ENST00000342175.11:c.60202+3A>G (TTN) | ENSP00000340554.6:n.60202+3A>G | |
| ENST00000359218.10:c.60001+3A>G (TTN) | ENSP00000352154.5:n.60001+3A>G | |
| ENST00000342175.10:c.60202+3A>G (TTN) | ENSP00000340554.6:n.60202+3A>G | |
| ENST00000342992.10:c.79117+3A>G (TTN) | ENSP00000343764.6:n.79117+3A>G | |
| ENST00000359218.9:c.60001+3A>G (TTN) | ENSP00000352154.5:n.60001+3A>G | |
| ENST00000460472.6:c.59626+3A>G (TTN) | ENSP00000434586.1:n.59626+3A>G | |
| ENST00000589042.5:c.86821+3A>G (TTN) MANE Select | ENSP00000467141.1:n.86821+3A>G | |
| ENST00000591111.5:c.81898+3A>G (TTN) | ENSP00000465570.1:n.81898+3A>G | |
| ENST00000615779.4:c.81898+3A>G (TTN) | ENSP00000483597.1:n.81898+3A>G | |
| NM_001256850.1:c.81898+3A>G (TTN) | NP_001243779.1:n.81898+3A>G | |
| NM_001267550.2:c.86821+3A>G (TTN) MANE Select | NP_001254479.2:n.86821+3A>G | |
| NM_003319.4:c.59626+3A>G (TTN) | NP_003310.4:n.59626+3A>G | |
| NM_133378.4:c.79117+3A>G (TTN) | NP_596869.4:n.79117+3A>G | |
| NM_133432.3:c.60001+3A>G (TTN) | NP_597676.3:n.60001+3A>G | |
| NM_133437.4:c.60202+3A>G (TTN) | NP_597681.4:n.60202+3A>G | |
| NR_038271.1:n.447-11992T>C (TTN-AS1) | ||
| NR_038272.1:n.2043+16947T>C (TTN-AS1) | ||
| XM_011511729.1:c.85918+3A>G (TTN) | XP_011510031.1:n.85918+3A>G | |
| XM_011511730.1:c.59812+3A>G (TTN) | XP_011510032.1:n.59812+3A>G | |
| XM_011511731.1:c.59671+3A>G (TTN) | XP_011510033.1:n.59671+3A>G | |
| XM_017004819.1:c.85714+3A>G (TTN) | XP_016860308.1:n.85714+3A>G | |
| XM_017004820.1:c.81112+3A>G (TTN) | XP_016860309.1:n.81112+3A>G | |
| XM_017004821.1:c.81109+3A>G (TTN) | XP_016860310.1:n.81109+3A>G | |
| XM_017004822.1:c.78151+3A>G (TTN) | XP_016860311.1:n.78151+3A>G | |
| XM_017004823.1:c.59767+3A>G (TTN) | XP_016860312.1:n.59767+3A>G | |
| XM_024453094.1:c.81262+3A>G (TTN) | XP_024308862.1:n.81262+3A>G | |
| XM_024453095.1:c.81259+3A>G (TTN) | XP_024308863.1:n.81259+3A>G | |
| XM_024453096.1:c.80692+3A>G (TTN) | XP_024308864.1:n.80692+3A>G | |
| XM_024453097.1:c.78034+3A>G (TTN) | XP_024308865.1:n.78034+3A>G | |
| XM_024453098.1:c.77953+3A>G (TTN) | XP_024308866.1:n.77953+3A>G | |
| XM_024453099.1:c.59716+3A>G (TTN) | XP_024308867.1:n.59716+3A>G | |
| XM_024453100.1:c.49570+3A>G (TTN) | XP_024308868.1:n.49570+3A>G |