Linked Data
ClinVar Variation Id:
167775
dbSNP Id:
rs727504190
ExAC:
2:179447060 T / C
gnomAD v2:
2-179447060-T-C
gnomAD v3:
2-178582333-T-C
gnomAD v4:
2-178582333-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178582333T>C , CM000664.2:g.178582333T>C | GRCh38 |
| NC_000002.11:g.179447060T>C , CM000664.1:g.179447060T>C | GRCh37 |
| NC_000002.10:g.179155306T>C | NCBI36 |
| NG_011618.3:g.253470A>G , LRG_391:g.253470A>G | |
| NG_051363.1:g.64507T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.58419A>G (TTN) | ENSP00000343764.6:p.Pro19473= | |
| ENST00000342175.11:c.39504A>G (TTN) | ENSP00000340554.6:p.Pro13168= | |
| ENST00000359218.10:c.39303A>G (TTN) | ENSP00000352154.5:p.Pro13101= | |
| ENST00000342175.10:c.39504A>G (TTN) | ENSP00000340554.6:p.Pro13168= | |
| ENST00000342992.10:c.58419A>G (TTN) | ENSP00000343764.6:p.Pro19473= | |
| ENST00000359218.9:c.39303A>G (TTN) | ENSP00000352154.5:p.Pro13101= | |
| ENST00000460472.6:c.38928A>G (TTN) | ENSP00000434586.1:p.Pro12976= | |
| ENST00000589042.5:c.66123A>G (TTN) MANE Select | ENSP00000467141.1:p.Pro22041= | |
| ENST00000591111.5:c.61200A>G (TTN) | ENSP00000465570.1:p.Pro20400= | |
| ENST00000615779.4:c.61200A>G (TTN) | ENSP00000483597.1:p.Pro20400= | |
| NM_001256850.1:c.61200A>G (TTN) | NP_001243779.1:p.Pro20400= | |
| NM_001267550.2:c.66123A>G (TTN) MANE Select | NP_001254479.2:p.Pro22041= | |
| NM_003319.4:c.38928A>G (TTN) | NP_003310.4:p.Pro12976= | |
| NM_133378.4:c.58419A>G (TTN) | NP_596869.4:p.Pro19473= | |
| NM_133432.3:c.39303A>G (TTN) | NP_597676.3:p.Pro13101= | |
| NM_133437.4:c.39504A>G (TTN) | NP_597681.4:p.Pro13168= | |
| NR_038271.1:n.596+10884T>C (TTN-AS1) | ||
| NR_038272.1:n.2044-239T>C (TTN-AS1) | ||
| XM_011511729.1:c.65220A>G (TTN) | XP_011510031.1:p.Pro21740= | |
| XM_011511730.1:c.39114A>G (TTN) | XP_011510032.1:p.Pro13038= | |
| XM_011511731.1:c.38973A>G (TTN) | XP_011510033.1:p.Pro12991= | |
| XM_017004819.1:c.65016A>G (TTN) | XP_016860308.1:p.Pro21672= | |
| XM_017004820.1:c.60414A>G (TTN) | XP_016860309.1:p.Pro20138= | |
| XM_017004821.1:c.60411A>G (TTN) | XP_016860310.1:p.Pro20137= | |
| XM_017004822.1:c.57453A>G (TTN) | XP_016860311.1:p.Pro19151= | |
| XM_017004823.1:c.39069A>G (TTN) | XP_016860312.1:p.Pro13023= | |
| XM_024453094.1:c.60564A>G (TTN) | XP_024308862.1:p.Pro20188= | |
| XM_024453095.1:c.60561A>G (TTN) | XP_024308863.1:p.Pro20187= | |
| XM_024453096.1:c.59994A>G (TTN) | XP_024308864.1:p.Pro19998= | |
| XM_024453097.1:c.57336A>G (TTN) | XP_024308865.1:p.Pro19112= | |
| XM_024453098.1:c.57255A>G (TTN) | XP_024308866.1:p.Pro19085= | |
| XM_024453099.1:c.39018A>G (TTN) | XP_024308867.1:p.Pro13006= | |
| XM_024453100.1:c.28872A>G (TTN) | XP_024308868.1:p.Pro9624= |