Linked Data
ClinVar Variation Id:
379344
ClinVar RCV Id:
RCV000442589
dbSNP Id:
rs1057520580
gnomAD v4:
2-178558118-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178558118G>C , CM000664.2:g.178558118G>C | GRCh38 |
| NC_000002.11:g.179422845G>C , CM000664.1:g.179422845G>C | GRCh37 |
| NC_000002.10:g.179131091G>C | NCBI36 |
| NG_011618.3:g.277685C>G , LRG_391:g.277685C>G | |
| NG_051363.1:g.40292G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.79532C>G (TTN) | ENSP00000343764.6:p.Ser26511Ter | |
| ENST00000342175.11:c.60617C>G (TTN) | ENSP00000340554.6:p.Ser20206Ter | |
| ENST00000359218.10:c.60416C>G (TTN) | ENSP00000352154.5:p.Ser20139Ter | |
| ENST00000342175.10:c.60617C>G (TTN) | ENSP00000340554.6:p.Ser20206Ter | |
| ENST00000342992.10:c.79532C>G (TTN) | ENSP00000343764.6:p.Ser26511Ter | |
| ENST00000359218.9:c.60416C>G (TTN) | ENSP00000352154.5:p.Ser20139Ter | |
| ENST00000460472.6:c.60041C>G (TTN) | ENSP00000434586.1:p.Ser20014Ter | |
| ENST00000589042.5:c.87236C>G (TTN) MANE Select | ENSP00000467141.1:p.Ser29079Ter | |
| ENST00000591111.5:c.82313C>G (TTN) | ENSP00000465570.1:p.Ser27438Ter | |
| ENST00000615779.4:c.82313C>G (TTN) | ENSP00000483597.1:p.Ser27438Ter | |
| NM_001256850.1:c.82313C>G (TTN) | NP_001243779.1:p.Ser27438Ter | |
| NM_001267550.2:c.87236C>G (TTN) MANE Select | NP_001254479.2:p.Ser29079Ter | |
| NM_003319.4:c.60041C>G (TTN) | NP_003310.4:p.Ser20014Ter | |
| NM_133378.4:c.79532C>G (TTN) | NP_596869.4:p.Ser26511Ter | |
| NM_133432.3:c.60416C>G (TTN) | NP_597676.3:p.Ser20139Ter | |
| NM_133437.4:c.60617C>G (TTN) | NP_597681.4:p.Ser20206Ter | |
| NR_038271.1:n.447-13182G>C (TTN-AS1) | ||
| NR_038272.1:n.2043+15757G>C (TTN-AS1) | ||
| XM_011511729.1:c.86333C>G (TTN) | XP_011510031.1:p.Ser28778Ter | |
| XM_011511730.1:c.60227C>G (TTN) | XP_011510032.1:p.Ser20076Ter | |
| XM_011511731.1:c.60086C>G (TTN) | XP_011510033.1:p.Ser20029Ter | |
| XM_017004819.1:c.86129C>G (TTN) | XP_016860308.1:p.Ser28710Ter | |
| XM_017004820.1:c.81527C>G (TTN) | XP_016860309.1:p.Ser27176Ter | |
| XM_017004821.1:c.81524C>G (TTN) | XP_016860310.1:p.Ser27175Ter | |
| XM_017004822.1:c.78566C>G (TTN) | XP_016860311.1:p.Ser26189Ter | |
| XM_017004823.1:c.60182C>G (TTN) | XP_016860312.1:p.Ser20061Ter | |
| XM_024453094.1:c.81677C>G (TTN) | XP_024308862.1:p.Ser27226Ter | |
| XM_024453095.1:c.81674C>G (TTN) | XP_024308863.1:p.Ser27225Ter | |
| XM_024453096.1:c.81107C>G (TTN) | XP_024308864.1:p.Ser27036Ter | |
| XM_024453097.1:c.78449C>G (TTN) | XP_024308865.1:p.Ser26150Ter | |
| XM_024453098.1:c.78368C>G (TTN) | XP_024308866.1:p.Ser26123Ter | |
| XM_024453099.1:c.60131C>G (TTN) | XP_024308867.1:p.Ser20044Ter | |
| XM_024453100.1:c.49985C>G (TTN) | XP_024308868.1:p.Ser16662Ter |