Linked Data
ClinVar Variation Id:
202905
dbSNP Id:
rs201490050
ExAC:
2:179429557 C / A
gnomAD v2:
2-179429557-C-A
gnomAD v3:
2-178564830-C-A
gnomAD v4:
2-178564830-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178564830C>A , CM000664.2:g.178564830C>A | GRCh38 |
| NC_000002.11:g.179429557C>A , CM000664.1:g.179429557C>A | GRCh37 |
| NC_000002.10:g.179137803C>A | NCBI36 |
| NG_011618.3:g.270973G>T , LRG_391:g.270973G>T | |
| NG_051363.1:g.47004C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.73598G>T (TTN) | ENSP00000343764.6:p.Gly24533Val | |
| ENST00000342175.11:c.54683G>T (TTN) | ENSP00000340554.6:p.Gly18228Val | |
| ENST00000359218.10:c.54482G>T (TTN) | ENSP00000352154.5:p.Gly18161Val | |
| ENST00000342175.10:c.54683G>T (TTN) | ENSP00000340554.6:p.Gly18228Val | |
| ENST00000342992.10:c.73598G>T (TTN) | ENSP00000343764.6:p.Gly24533Val | |
| ENST00000359218.9:c.54482G>T (TTN) | ENSP00000352154.5:p.Gly18161Val | |
| ENST00000460472.6:c.54107G>T (TTN) | ENSP00000434586.1:p.Gly18036Val | |
| ENST00000589042.5:c.81302G>T (TTN) MANE Select | ENSP00000467141.1:p.Gly27101Val | |
| ENST00000591111.5:c.76379G>T (TTN) | ENSP00000465570.1:p.Gly25460Val | |
| ENST00000615779.4:c.76379G>T (TTN) | ENSP00000483597.1:p.Gly25460Val | |
| NM_001256850.1:c.76379G>T (TTN) | NP_001243779.1:p.Gly25460Val | |
| NM_001267550.2:c.81302G>T (TTN) MANE Select | NP_001254479.2:p.Gly27101Val | |
| NM_003319.4:c.54107G>T (TTN) | NP_003310.4:p.Gly18036Val | |
| NM_133378.4:c.73598G>T (TTN) | NP_596869.4:p.Gly24533Val | |
| NM_133432.3:c.54482G>T (TTN) | NP_597676.3:p.Gly18161Val | |
| NM_133437.4:c.54683G>T (TTN) | NP_597681.4:p.Gly18228Val | |
| NR_038271.1:n.447-6470C>A (TTN-AS1) | ||
| NR_038272.1:n.2044-17742C>A (TTN-AS1) | ||
| XM_011511729.1:c.80399G>T (TTN) | XP_011510031.1:p.Gly26800Val | |
| XM_011511730.1:c.54293G>T (TTN) | XP_011510032.1:p.Gly18098Val | |
| XM_011511731.1:c.54152G>T (TTN) | XP_011510033.1:p.Gly18051Val | |
| XM_017004819.1:c.80195G>T (TTN) | XP_016860308.1:p.Gly26732Val | |
| XM_017004820.1:c.75593G>T (TTN) | XP_016860309.1:p.Gly25198Val | |
| XM_017004821.1:c.75590G>T (TTN) | XP_016860310.1:p.Gly25197Val | |
| XM_017004822.1:c.72632G>T (TTN) | XP_016860311.1:p.Gly24211Val | |
| XM_017004823.1:c.54248G>T (TTN) | XP_016860312.1:p.Gly18083Val | |
| XM_024453094.1:c.75743G>T (TTN) | XP_024308862.1:p.Gly25248Val | |
| XM_024453095.1:c.75740G>T (TTN) | XP_024308863.1:p.Gly25247Val | |
| XM_024453096.1:c.75173G>T (TTN) | XP_024308864.1:p.Gly25058Val | |
| XM_024453097.1:c.72515G>T (TTN) | XP_024308865.1:p.Gly24172Val | |
| XM_024453098.1:c.72434G>T (TTN) | XP_024308866.1:p.Gly24145Val | |
| XM_024453099.1:c.54197G>T (TTN) | XP_024308867.1:p.Gly18066Val | |
| XM_024453100.1:c.44051G>T (TTN) | XP_024308868.1:p.Gly14684Val |