Linked Data
ClinVar Variation Id:
137820
ClinVar RCV Id:
RCV000125993
RCV001132213
RCV001132215
RCV001132214
RCV000866384
RCV001132211
RCV001132212
RCV003162565
dbSNP Id:
rs377340289
ExAC:
2:179395772 T / C
gnomAD v2:
2-179395772-T-C
gnomAD v3:
2-178531045-T-C
gnomAD v4:
2-178531045-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178531045T>C , CM000664.2:g.178531045T>C | GRCh38 |
| NC_000002.11:g.179395772T>C , CM000664.1:g.179395772T>C | GRCh37 |
| NC_000002.10:g.179104018T>C | NCBI36 |
| NG_011618.3:g.304758A>G , LRG_391:g.304758A>G | |
| NG_051363.1:g.13219T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.97866A>G (TTN) | ENSP00000343764.6:p.Ser32622= | |
| ENST00000342175.11:c.78951A>G (TTN) | ENSP00000340554.6:p.Ser26317= | |
| ENST00000359218.10:c.78750A>G (TTN) | ENSP00000352154.5:p.Ser26250= | |
| ENST00000342175.10:c.78951A>G (TTN) | ENSP00000340554.6:p.Ser26317= | |
| ENST00000342992.10:c.97866A>G (TTN) | ENSP00000343764.6:p.Ser32622= | |
| ENST00000359218.9:c.78750A>G (TTN) | ENSP00000352154.5:p.Ser26250= | |
| ENST00000460472.6:c.78375A>G (TTN) | ENSP00000434586.1:p.Ser26125= | |
| ENST00000589042.5:c.105570A>G (TTN) MANE Select | ENSP00000467141.1:p.Ser35190= | |
| ENST00000591111.5:c.100647A>G (TTN) | ENSP00000465570.1:p.Ser33549= | |
| ENST00000615779.4:c.100647A>G (TTN) | ENSP00000483597.1:p.Ser33549= | |
| NM_001256850.1:c.100647A>G (TTN) | NP_001243779.1:p.Ser33549= | |
| NM_001267550.2:c.105570A>G (TTN) MANE Select | NP_001254479.2:p.Ser35190= | |
| NM_003319.4:c.78375A>G (TTN) | NP_003310.4:p.Ser26125= | |
| NM_133378.4:c.97866A>G (TTN) | NP_596869.4:p.Ser32622= | |
| NM_133432.3:c.78750A>G (TTN) | NP_597676.3:p.Ser26250= | |
| NM_133437.4:c.78951A>G (TTN) | NP_597681.4:p.Ser26317= | |
| NR_038271.1:n.446+7409T>C (TTN-AS1) | ||
| NR_038272.1:n.220-4687T>C (TTN-AS1) | ||
| XM_011511729.1:c.104667A>G (TTN) | XP_011510031.1:p.Ser34889= | |
| XM_011511730.1:c.78561A>G (TTN) | XP_011510032.1:p.Ser26187= | |
| XM_011511731.1:c.78420A>G (TTN) | XP_011510033.1:p.Ser26140= | |
| XM_017004819.1:c.104463A>G (TTN) | XP_016860308.1:p.Ser34821= | |
| XM_017004820.1:c.99861A>G (TTN) | XP_016860309.1:p.Ser33287= | |
| XM_017004821.1:c.99858A>G (TTN) | XP_016860310.1:p.Ser33286= | |
| XM_017004822.1:c.96900A>G (TTN) | XP_016860311.1:p.Ser32300= | |
| XM_017004823.1:c.78516A>G (TTN) | XP_016860312.1:p.Ser26172= | |
| XM_024453094.1:c.100011A>G (TTN) | XP_024308862.1:p.Ser33337= | |
| XM_024453095.1:c.100008A>G (TTN) | XP_024308863.1:p.Ser33336= | |
| XM_024453096.1:c.99441A>G (TTN) | XP_024308864.1:p.Ser33147= | |
| XM_024453097.1:c.96783A>G (TTN) | XP_024308865.1:p.Ser32261= | |
| XM_024453098.1:c.96702A>G (TTN) | XP_024308866.1:p.Ser32234= | |
| XM_024453099.1:c.78465A>G (TTN) | XP_024308867.1:p.Ser26155= | |
| XM_024453100.1:c.68319A>G (TTN) | XP_024308868.1:p.Ser22773= |