Linked Data
ClinVar Variation Id:
202889
dbSNP Id:
rs191263181
ExAC:
2:179432413 G / C
gnomAD v2:
2-179432413-G-C
gnomAD v3:
2-178567686-G-C
gnomAD v4:
2-178567686-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178567686G>C , CM000664.2:g.178567686G>C | GRCh38 |
| NC_000002.11:g.179432413G>C , CM000664.1:g.179432413G>C | GRCh37 |
| NC_000002.10:g.179140659G>C | NCBI36 |
| NG_011618.3:g.268117C>G , LRG_391:g.268117C>G | |
| NG_051363.1:g.49860G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.70742C>G (TTN) | ENSP00000343764.6:p.Thr23581Ser | |
| ENST00000342175.11:c.51827C>G (TTN) | ENSP00000340554.6:p.Thr17276Ser | |
| ENST00000359218.10:c.51626C>G (TTN) | ENSP00000352154.5:p.Thr17209Ser | |
| ENST00000342175.10:c.51827C>G (TTN) | ENSP00000340554.6:p.Thr17276Ser | |
| ENST00000342992.10:c.70742C>G (TTN) | ENSP00000343764.6:p.Thr23581Ser | |
| ENST00000359218.9:c.51626C>G (TTN) | ENSP00000352154.5:p.Thr17209Ser | |
| ENST00000460472.6:c.51251C>G (TTN) | ENSP00000434586.1:p.Thr17084Ser | |
| ENST00000589042.5:c.78446C>G (TTN) MANE Select | ENSP00000467141.1:p.Thr26149Ser | |
| ENST00000591111.5:c.73523C>G (TTN) | ENSP00000465570.1:p.Thr24508Ser | |
| ENST00000615779.4:c.73523C>G (TTN) | ENSP00000483597.1:p.Thr24508Ser | |
| NM_001256850.1:c.73523C>G (TTN) | NP_001243779.1:p.Thr24508Ser | |
| NM_001267550.2:c.78446C>G (TTN) MANE Select | NP_001254479.2:p.Thr26149Ser | |
| NM_003319.4:c.51251C>G (TTN) | NP_003310.4:p.Thr17084Ser | |
| NM_133378.4:c.70742C>G (TTN) | NP_596869.4:p.Thr23581Ser | |
| NM_133432.3:c.51626C>G (TTN) | NP_597676.3:p.Thr17209Ser | |
| NM_133437.4:c.51827C>G (TTN) | NP_597681.4:p.Thr17276Ser | |
| NR_038271.1:n.447-3614G>C (TTN-AS1) | ||
| NR_038272.1:n.2044-14886G>C (TTN-AS1) | ||
| XM_011511729.1:c.77543C>G (TTN) | XP_011510031.1:p.Thr25848Ser | |
| XM_011511730.1:c.51437C>G (TTN) | XP_011510032.1:p.Thr17146Ser | |
| XM_011511731.1:c.51296C>G (TTN) | XP_011510033.1:p.Thr17099Ser | |
| XM_017004819.1:c.77339C>G (TTN) | XP_016860308.1:p.Thr25780Ser | |
| XM_017004820.1:c.72737C>G (TTN) | XP_016860309.1:p.Thr24246Ser | |
| XM_017004821.1:c.72734C>G (TTN) | XP_016860310.1:p.Thr24245Ser | |
| XM_017004822.1:c.69776C>G (TTN) | XP_016860311.1:p.Thr23259Ser | |
| XM_017004823.1:c.51392C>G (TTN) | XP_016860312.1:p.Thr17131Ser | |
| XM_024453094.1:c.72887C>G (TTN) | XP_024308862.1:p.Thr24296Ser | |
| XM_024453095.1:c.72884C>G (TTN) | XP_024308863.1:p.Thr24295Ser | |
| XM_024453096.1:c.72317C>G (TTN) | XP_024308864.1:p.Thr24106Ser | |
| XM_024453097.1:c.69659C>G (TTN) | XP_024308865.1:p.Thr23220Ser | |
| XM_024453098.1:c.69578C>G (TTN) | XP_024308866.1:p.Thr23193Ser | |
| XM_024453099.1:c.51341C>G (TTN) | XP_024308867.1:p.Thr17114Ser | |
| XM_024453100.1:c.41195C>G (TTN) | XP_024308868.1:p.Thr13732Ser |