Linked Data
ClinVar Variation Id:
165976
dbSNP Id:
rs372686070
ExAC:
2:179469609 T / C
gnomAD v2:
2-179469609-T-C
gnomAD v3:
2-178604882-T-C
gnomAD v4:
2-178604882-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178604882T>C , CM000664.2:g.178604882T>C | GRCh38 |
| NC_000002.11:g.179469609T>C , CM000664.1:g.179469609T>C | GRCh37 |
| NC_000002.10:g.179177854T>C | NCBI36 |
| NG_011618.3:g.230921A>G , LRG_391:g.230921A>G | |
| NG_051363.1:g.87056T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.46503A>G (TTN) | ENSP00000343764.6:p.Pro15501= | |
| ENST00000342175.11:c.27588A>G (TTN) | ENSP00000340554.6:p.Pro9196= | |
| ENST00000359218.10:c.27387A>G (TTN) | ENSP00000352154.5:p.Pro9129= | |
| ENST00000342175.10:c.27588A>G (TTN) | ENSP00000340554.6:p.Pro9196= | |
| ENST00000342992.10:c.46503A>G (TTN) | ENSP00000343764.6:p.Pro15501= | |
| ENST00000359218.9:c.27387A>G (TTN) | ENSP00000352154.5:p.Pro9129= | |
| ENST00000460472.6:c.27012A>G (TTN) | ENSP00000434586.1:p.Pro9004= | |
| ENST00000589042.5:c.54207A>G (TTN) MANE Select | ENSP00000467141.1:p.Pro18069= | |
| ENST00000591111.5:c.49284A>G (TTN) | ENSP00000465570.1:p.Pro16428= | |
| ENST00000615779.4:c.49284A>G (TTN) | ENSP00000483597.1:p.Pro16428= | |
| NM_001256850.1:c.49284A>G (TTN) | NP_001243779.1:p.Pro16428= | |
| NM_001267550.2:c.54207A>G (TTN) MANE Select | NP_001254479.2:p.Pro18069= | |
| NM_003319.4:c.27012A>G (TTN) | NP_003310.4:p.Pro9004= | |
| NM_133378.4:c.46503A>G (TTN) | NP_596869.4:p.Pro15501= | |
| NM_133432.3:c.27387A>G (TTN) | NP_597676.3:p.Pro9129= | |
| NM_133437.4:c.27588A>G (TTN) | NP_597681.4:p.Pro9196= | |
| NR_038271.1:n.683-3285T>C (TTN-AS1) | ||
| NR_038272.1:n.4069T>C (TTN-AS1) | ||
| XM_011511729.1:c.53304A>G (TTN) | XP_011510031.1:p.Pro17768= | |
| XM_011511730.1:c.27198A>G (TTN) | XP_011510032.1:p.Pro9066= | |
| XM_011511731.1:c.27057A>G (TTN) | XP_011510033.1:p.Pro9019= | |
| XM_017004819.1:c.53100A>G (TTN) | XP_016860308.1:p.Pro17700= | |
| XM_017004820.1:c.48498A>G (TTN) | XP_016860309.1:p.Pro16166= | |
| XM_017004821.1:c.48495A>G (TTN) | XP_016860310.1:p.Pro16165= | |
| XM_017004822.1:c.45537A>G (TTN) | XP_016860311.1:p.Pro15179= | |
| XM_017004823.1:c.27153A>G (TTN) | XP_016860312.1:p.Pro9051= | |
| XM_024453094.1:c.48648A>G (TTN) | XP_024308862.1:p.Pro16216= | |
| XM_024453095.1:c.48645A>G (TTN) | XP_024308863.1:p.Pro16215= | |
| XM_024453096.1:c.48078A>G (TTN) | XP_024308864.1:p.Pro16026= | |
| XM_024453097.1:c.45420A>G (TTN) | XP_024308865.1:p.Pro15140= | |
| XM_024453098.1:c.45339A>G (TTN) | XP_024308866.1:p.Pro15113= | |
| XM_024453099.1:c.27102A>G (TTN) | XP_024308867.1:p.Pro9034= | |
| XM_024453100.1:c.16956A>G (TTN) | XP_024308868.1:p.Pro5652= |