Linked Data
dbSNP Id:
rs773932096
ExAC:
2:179417284 C / G
gnomAD v2:
2-179417284-C-G
gnomAD v4:
2-178552557-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552557C>G , CM000664.2:g.178552557C>G | GRCh38 |
| NC_000002.11:g.179417284C>G , CM000664.1:g.179417284C>G | GRCh37 |
| NC_000002.10:g.179125530C>G | NCBI36 |
| NG_011618.3:g.283246G>C , LRG_391:g.283246G>C | |
| NG_051363.1:g.34731C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.82639G>C (TTN) | ENSP00000343764.6:p.Val27547Leu | |
| ENST00000342175.11:c.63724G>C (TTN) | ENSP00000340554.6:p.Val21242Leu | |
| ENST00000359218.10:c.63523G>C (TTN) | ENSP00000352154.5:p.Val21175Leu | |
| ENST00000342175.10:c.63724G>C (TTN) | ENSP00000340554.6:p.Val21242Leu | |
| ENST00000342992.10:c.82639G>C (TTN) | ENSP00000343764.6:p.Val27547Leu | |
| ENST00000359218.9:c.63523G>C (TTN) | ENSP00000352154.5:p.Val21175Leu | |
| ENST00000460472.6:c.63148G>C (TTN) | ENSP00000434586.1:p.Val21050Leu | |
| ENST00000589042.5:c.90343G>C (TTN) MANE Select | ENSP00000467141.1:p.Val30115Leu | |
| ENST00000591111.5:c.85420G>C (TTN) | ENSP00000465570.1:p.Val28474Leu | |
| ENST00000615779.4:c.85420G>C (TTN) | ENSP00000483597.1:p.Val28474Leu | |
| NM_001256850.1:c.85420G>C (TTN) | NP_001243779.1:p.Val28474Leu | |
| NM_001267550.2:c.90343G>C (TTN) MANE Select | NP_001254479.2:p.Val30115Leu | |
| NM_003319.4:c.63148G>C (TTN) | NP_003310.4:p.Val21050Leu | |
| NM_133378.4:c.82639G>C (TTN) | NP_596869.4:p.Val27547Leu | |
| NM_133432.3:c.63523G>C (TTN) | NP_597676.3:p.Val21175Leu | |
| NM_133437.4:c.63724G>C (TTN) | NP_597681.4:p.Val21242Leu | |
| NR_038271.1:n.447-18743C>G (TTN-AS1) | ||
| NR_038272.1:n.2043+10196C>G (TTN-AS1) | ||
| XM_011511729.1:c.89440G>C (TTN) | XP_011510031.1:p.Val29814Leu | |
| XM_011511730.1:c.63334G>C (TTN) | XP_011510032.1:p.Val21112Leu | |
| XM_011511731.1:c.63193G>C (TTN) | XP_011510033.1:p.Val21065Leu | |
| XM_017004819.1:c.89236G>C (TTN) | XP_016860308.1:p.Val29746Leu | |
| XM_017004820.1:c.84634G>C (TTN) | XP_016860309.1:p.Val28212Leu | |
| XM_017004821.1:c.84631G>C (TTN) | XP_016860310.1:p.Val28211Leu | |
| XM_017004822.1:c.81673G>C (TTN) | XP_016860311.1:p.Val27225Leu | |
| XM_017004823.1:c.63289G>C (TTN) | XP_016860312.1:p.Val21097Leu | |
| XM_024453094.1:c.84784G>C (TTN) | XP_024308862.1:p.Val28262Leu | |
| XM_024453095.1:c.84781G>C (TTN) | XP_024308863.1:p.Val28261Leu | |
| XM_024453096.1:c.84214G>C (TTN) | XP_024308864.1:p.Val28072Leu | |
| XM_024453097.1:c.81556G>C (TTN) | XP_024308865.1:p.Val27186Leu | |
| XM_024453098.1:c.81475G>C (TTN) | XP_024308866.1:p.Val27159Leu | |
| XM_024453099.1:c.63238G>C (TTN) | XP_024308867.1:p.Val21080Leu | |
| XM_024453100.1:c.53092G>C (TTN) | XP_024308868.1:p.Val17698Leu |