Linked Data
dbSNP Id:
rs779096830
ExAC:
2:179416570 C / G
gnomAD v2:
2-179416570-C-G
gnomAD v4:
2-178551843-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178551843C>G , CM000664.2:g.178551843C>G | GRCh38 |
| NC_000002.11:g.179416570C>G , CM000664.1:g.179416570C>G | GRCh37 |
| NC_000002.10:g.179124816C>G | NCBI36 |
| NG_011618.3:g.283960G>C , LRG_391:g.283960G>C | |
| NG_051363.1:g.34017C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.83353G>C (TTN) | ENSP00000343764.6:p.Gly27785Arg | |
| ENST00000342175.11:c.64438G>C (TTN) | ENSP00000340554.6:p.Gly21480Arg | |
| ENST00000359218.10:c.64237G>C (TTN) | ENSP00000352154.5:p.Gly21413Arg | |
| ENST00000342175.10:c.64438G>C (TTN) | ENSP00000340554.6:p.Gly21480Arg | |
| ENST00000342992.10:c.83353G>C (TTN) | ENSP00000343764.6:p.Gly27785Arg | |
| ENST00000359218.9:c.64237G>C (TTN) | ENSP00000352154.5:p.Gly21413Arg | |
| ENST00000460472.6:c.63862G>C (TTN) | ENSP00000434586.1:p.Gly21288Arg | |
| ENST00000589042.5:c.91057G>C (TTN) MANE Select | ENSP00000467141.1:p.Gly30353Arg | |
| ENST00000591111.5:c.86134G>C (TTN) | ENSP00000465570.1:p.Gly28712Arg | |
| ENST00000615779.4:c.86134G>C (TTN) | ENSP00000483597.1:p.Gly28712Arg | |
| NM_001256850.1:c.86134G>C (TTN) | NP_001243779.1:p.Gly28712Arg | |
| NM_001267550.2:c.91057G>C (TTN) MANE Select | NP_001254479.2:p.Gly30353Arg | |
| NM_003319.4:c.63862G>C (TTN) | NP_003310.4:p.Gly21288Arg | |
| NM_133378.4:c.83353G>C (TTN) | NP_596869.4:p.Gly27785Arg | |
| NM_133432.3:c.64237G>C (TTN) | NP_597676.3:p.Gly21413Arg | |
| NM_133437.4:c.64438G>C (TTN) | NP_597681.4:p.Gly21480Arg | |
| NR_038271.1:n.447-19457C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+9482C>G (TTN-AS1) | ||
| XM_011511729.1:c.90154G>C (TTN) | XP_011510031.1:p.Gly30052Arg | |
| XM_011511730.1:c.64048G>C (TTN) | XP_011510032.1:p.Gly21350Arg | |
| XM_011511731.1:c.63907G>C (TTN) | XP_011510033.1:p.Gly21303Arg | |
| XM_017004819.1:c.89950G>C (TTN) | XP_016860308.1:p.Gly29984Arg | |
| XM_017004820.1:c.85348G>C (TTN) | XP_016860309.1:p.Gly28450Arg | |
| XM_017004821.1:c.85345G>C (TTN) | XP_016860310.1:p.Gly28449Arg | |
| XM_017004822.1:c.82387G>C (TTN) | XP_016860311.1:p.Gly27463Arg | |
| XM_017004823.1:c.64003G>C (TTN) | XP_016860312.1:p.Gly21335Arg | |
| XM_024453094.1:c.85498G>C (TTN) | XP_024308862.1:p.Gly28500Arg | |
| XM_024453095.1:c.85495G>C (TTN) | XP_024308863.1:p.Gly28499Arg | |
| XM_024453096.1:c.84928G>C (TTN) | XP_024308864.1:p.Gly28310Arg | |
| XM_024453097.1:c.82270G>C (TTN) | XP_024308865.1:p.Gly27424Arg | |
| XM_024453098.1:c.82189G>C (TTN) | XP_024308866.1:p.Gly27397Arg | |
| XM_024453099.1:c.63952G>C (TTN) | XP_024308867.1:p.Gly21318Arg | |
| XM_024453100.1:c.53806G>C (TTN) | XP_024308868.1:p.Gly17936Arg |