Linked Data
ClinVar Variation Id:
178189
dbSNP Id:
rs375204371
ExAC:
2:179435355 A / C
gnomAD v2:
2-179435355-A-C
gnomAD v3:
2-178570628-A-C
gnomAD v4:
2-178570628-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178570628A>C , CM000664.2:g.178570628A>C | GRCh38 |
| NC_000002.11:g.179435355A>C , CM000664.1:g.179435355A>C | GRCh37 |
| NC_000002.10:g.179143601A>C | NCBI36 |
| NG_011618.3:g.265175T>G , LRG_391:g.265175T>G | |
| NG_051363.1:g.52802A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.67800T>G (TTN) | ENSP00000343764.6:p.Ser22600Arg | |
| ENST00000342175.11:c.48885T>G (TTN) | ENSP00000340554.6:p.Ser16295Arg | |
| ENST00000359218.10:c.48684T>G (TTN) | ENSP00000352154.5:p.Ser16228Arg | |
| ENST00000342175.10:c.48885T>G (TTN) | ENSP00000340554.6:p.Ser16295Arg | |
| ENST00000342992.10:c.67800T>G (TTN) | ENSP00000343764.6:p.Ser22600Arg | |
| ENST00000359218.9:c.48684T>G (TTN) | ENSP00000352154.5:p.Ser16228Arg | |
| ENST00000460472.6:c.48309T>G (TTN) | ENSP00000434586.1:p.Ser16103Arg | |
| ENST00000589042.5:c.75504T>G (TTN) MANE Select | ENSP00000467141.1:p.Ser25168Arg | |
| ENST00000591111.5:c.70581T>G (TTN) | ENSP00000465570.1:p.Ser23527Arg | |
| ENST00000615779.4:c.70581T>G (TTN) | ENSP00000483597.1:p.Ser23527Arg | |
| NM_001256850.1:c.70581T>G (TTN) | NP_001243779.1:p.Ser23527Arg | |
| NM_001267550.2:c.75504T>G (TTN) MANE Select | NP_001254479.2:p.Ser25168Arg | |
| NM_003319.4:c.48309T>G (TTN) | NP_003310.4:p.Ser16103Arg | |
| NM_133378.4:c.67800T>G (TTN) | NP_596869.4:p.Ser22600Arg | |
| NM_133432.3:c.48684T>G (TTN) | NP_597676.3:p.Ser16228Arg | |
| NM_133437.4:c.48885T>G (TTN) | NP_597681.4:p.Ser16295Arg | |
| NR_038271.1:n.447-672A>C (TTN-AS1) | ||
| NR_038272.1:n.2044-11944A>C (TTN-AS1) | ||
| XM_011511729.1:c.74601T>G (TTN) | XP_011510031.1:p.Ser24867Arg | |
| XM_011511730.1:c.48495T>G (TTN) | XP_011510032.1:p.Ser16165Arg | |
| XM_011511731.1:c.48354T>G (TTN) | XP_011510033.1:p.Ser16118Arg | |
| XM_017004819.1:c.74397T>G (TTN) | XP_016860308.1:p.Ser24799Arg | |
| XM_017004820.1:c.69795T>G (TTN) | XP_016860309.1:p.Ser23265Arg | |
| XM_017004821.1:c.69792T>G (TTN) | XP_016860310.1:p.Ser23264Arg | |
| XM_017004822.1:c.66834T>G (TTN) | XP_016860311.1:p.Ser22278Arg | |
| XM_017004823.1:c.48450T>G (TTN) | XP_016860312.1:p.Ser16150Arg | |
| XM_024453094.1:c.69945T>G (TTN) | XP_024308862.1:p.Ser23315Arg | |
| XM_024453095.1:c.69942T>G (TTN) | XP_024308863.1:p.Ser23314Arg | |
| XM_024453096.1:c.69375T>G (TTN) | XP_024308864.1:p.Ser23125Arg | |
| XM_024453097.1:c.66717T>G (TTN) | XP_024308865.1:p.Ser22239Arg | |
| XM_024453098.1:c.66636T>G (TTN) | XP_024308866.1:p.Ser22212Arg | |
| XM_024453099.1:c.48399T>G (TTN) | XP_024308867.1:p.Ser16133Arg | |
| XM_024453100.1:c.38253T>G (TTN) | XP_024308868.1:p.Ser12751Arg |