Linked Data
ClinVar Variation Id:
47149
dbSNP Id:
rs371719028
ExAC:
2:179457528 T / C
gnomAD v2:
2-179457528-T-C
gnomAD v3:
2-178592801-T-C
gnomAD v4:
2-178592801-T-C
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178592801T>C , CM000664.2:g.178592801T>C | GRCh38 |
| NC_000002.11:g.179457528T>C , CM000664.1:g.179457528T>C | GRCh37 |
| NC_000002.10:g.179165774T>C | NCBI36 |
| NG_011618.3:g.243002A>G , LRG_391:g.243002A>G | |
| NG_051363.1:g.74975T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.51614A>G (TTN) | ENSP00000343764.6:p.Glu17205Gly | |
| ENST00000342175.11:c.32699A>G (TTN) | ENSP00000340554.6:p.Glu10900Gly | |
| ENST00000359218.10:c.32498A>G (TTN) | ENSP00000352154.5:p.Glu10833Gly | |
| ENST00000342175.10:c.32699A>G (TTN) | ENSP00000340554.6:p.Glu10900Gly | |
| ENST00000342992.10:c.51614A>G (TTN) | ENSP00000343764.6:p.Glu17205Gly | |
| ENST00000359218.9:c.32498A>G (TTN) | ENSP00000352154.5:p.Glu10833Gly | |
| ENST00000460472.6:c.32123A>G (TTN) | ENSP00000434586.1:p.Glu10708Gly | |
| ENST00000589042.5:c.59318A>G (TTN) MANE Select | ENSP00000467141.1:p.Glu19773Gly | |
| ENST00000591111.5:c.54395A>G (TTN) | ENSP00000465570.1:p.Glu18132Gly | |
| ENST00000615779.4:c.54395A>G (TTN) | ENSP00000483597.1:p.Glu18132Gly | |
| NM_001256850.1:c.54395A>G (TTN) | NP_001243779.1:p.Glu18132Gly | |
| NM_001267550.2:c.59318A>G (TTN) MANE Select | NP_001254479.2:p.Glu19773Gly | |
| NM_003319.4:c.32123A>G (TTN) | NP_003310.4:p.Glu10708Gly | |
| NM_133378.4:c.51614A>G (TTN) | NP_596869.4:p.Glu17205Gly | |
| NM_133432.3:c.32498A>G (TTN) | NP_597676.3:p.Glu10833Gly | |
| NM_133437.4:c.32699A>G (TTN) | NP_597681.4:p.Glu10900Gly | |
| NR_038271.1:n.597-4795T>C (TTN-AS1) | ||
| NR_038272.1:n.3364+1487T>C (TTN-AS1) | ||
| XM_011511729.1:c.58415A>G (TTN) | XP_011510031.1:p.Glu19472Gly | |
| XM_011511730.1:c.32309A>G (TTN) | XP_011510032.1:p.Glu10770Gly | |
| XM_011511731.1:c.32168A>G (TTN) | XP_011510033.1:p.Glu10723Gly | |
| XM_017004819.1:c.58211A>G (TTN) | XP_016860308.1:p.Glu19404Gly | |
| XM_017004820.1:c.53609A>G (TTN) | XP_016860309.1:p.Glu17870Gly | |
| XM_017004821.1:c.53606A>G (TTN) | XP_016860310.1:p.Glu17869Gly | |
| XM_017004822.1:c.50648A>G (TTN) | XP_016860311.1:p.Glu16883Gly | |
| XM_017004823.1:c.32264A>G (TTN) | XP_016860312.1:p.Glu10755Gly | |
| XM_024453094.1:c.53759A>G (TTN) | XP_024308862.1:p.Glu17920Gly | |
| XM_024453095.1:c.53756A>G (TTN) | XP_024308863.1:p.Glu17919Gly | |
| XM_024453096.1:c.53189A>G (TTN) | XP_024308864.1:p.Glu17730Gly | |
| XM_024453097.1:c.50531A>G (TTN) | XP_024308865.1:p.Glu16844Gly | |
| XM_024453098.1:c.50450A>G (TTN) | XP_024308866.1:p.Glu16817Gly | |
| XM_024453099.1:c.32213A>G (TTN) | XP_024308867.1:p.Glu10738Gly | |
| XM_024453100.1:c.22067A>G (TTN) | XP_024308868.1:p.Glu7356Gly |