Linked Data
ClinVar Variation Id:
202762
dbSNP Id:
rs72646849
ExAC:
2:179454020 T / C
gnomAD v2:
2-179454020-T-C
gnomAD v3:
2-178589293-T-C
gnomAD v4:
2-178589293-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178589293T>C , CM000664.2:g.178589293T>C | GRCh38 |
| NC_000002.11:g.179454020T>C , CM000664.1:g.179454020T>C | GRCh37 |
| NC_000002.10:g.179162266T>C | NCBI36 |
| NG_011618.3:g.246510A>G , LRG_391:g.246510A>G | |
| NG_051363.1:g.71467T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.54728A>G (TTN) | ENSP00000343764.6:p.Asp18243Gly | |
| ENST00000342175.11:c.35813A>G (TTN) | ENSP00000340554.6:p.Asp11938Gly | |
| ENST00000359218.10:c.35612A>G (TTN) | ENSP00000352154.5:p.Asp11871Gly | |
| ENST00000342175.10:c.35813A>G (TTN) | ENSP00000340554.6:p.Asp11938Gly | |
| ENST00000342992.10:c.54728A>G (TTN) | ENSP00000343764.6:p.Asp18243Gly | |
| ENST00000359218.9:c.35612A>G (TTN) | ENSP00000352154.5:p.Asp11871Gly | |
| ENST00000460472.6:c.35237A>G (TTN) | ENSP00000434586.1:p.Asp11746Gly | |
| ENST00000589042.5:c.62432A>G (TTN) MANE Select | ENSP00000467141.1:p.Asp20811Gly | |
| ENST00000591111.5:c.57509A>G (TTN) | ENSP00000465570.1:p.Asp19170Gly | |
| ENST00000615779.4:c.57509A>G (TTN) | ENSP00000483597.1:p.Asp19170Gly | |
| NM_001256850.1:c.57509A>G (TTN) | NP_001243779.1:p.Asp19170Gly | |
| NM_001267550.2:c.62432A>G (TTN) MANE Select | NP_001254479.2:p.Asp20811Gly | |
| NM_003319.4:c.35237A>G (TTN) | NP_003310.4:p.Asp11746Gly | |
| NM_133378.4:c.54728A>G (TTN) | NP_596869.4:p.Asp18243Gly | |
| NM_133432.3:c.35612A>G (TTN) | NP_597676.3:p.Asp11871Gly | |
| NM_133437.4:c.35813A>G (TTN) | NP_597681.4:p.Asp11938Gly | |
| NR_038271.1:n.597-8303T>C (TTN-AS1) | ||
| NR_038272.1:n.3189-1846T>C (TTN-AS1) | ||
| XM_011511729.1:c.61529A>G (TTN) | XP_011510031.1:p.Asp20510Gly | |
| XM_011511730.1:c.35423A>G (TTN) | XP_011510032.1:p.Asp11808Gly | |
| XM_011511731.1:c.35282A>G (TTN) | XP_011510033.1:p.Asp11761Gly | |
| XM_017004819.1:c.61325A>G (TTN) | XP_016860308.1:p.Asp20442Gly | |
| XM_017004820.1:c.56723A>G (TTN) | XP_016860309.1:p.Asp18908Gly | |
| XM_017004821.1:c.56720A>G (TTN) | XP_016860310.1:p.Asp18907Gly | |
| XM_017004822.1:c.53762A>G (TTN) | XP_016860311.1:p.Asp17921Gly | |
| XM_017004823.1:c.35378A>G (TTN) | XP_016860312.1:p.Asp11793Gly | |
| XM_024453094.1:c.56873A>G (TTN) | XP_024308862.1:p.Asp18958Gly | |
| XM_024453095.1:c.56870A>G (TTN) | XP_024308863.1:p.Asp18957Gly | |
| XM_024453096.1:c.56303A>G (TTN) | XP_024308864.1:p.Asp18768Gly | |
| XM_024453097.1:c.53645A>G (TTN) | XP_024308865.1:p.Asp17882Gly | |
| XM_024453098.1:c.53564A>G (TTN) | XP_024308866.1:p.Asp17855Gly | |
| XM_024453099.1:c.35327A>G (TTN) | XP_024308867.1:p.Asp11776Gly | |
| XM_024453100.1:c.25181A>G (TTN) | XP_024308868.1:p.Asp8394Gly |