Linked Data
ClinVar Variation Id:
47137
ClinVar RCV Id:
RCV000040407
RCV000463384
RCV000620821
RCV000770002
RCV001129739
RCV001129741
RCV001134735
RCV000852834
RCV001129740
RCV001129742
dbSNP Id:
rs201840554
ExAC:
2:179458391 C / G
gnomAD v2:
2-179458391-C-G
gnomAD v3:
2-178593664-C-G
gnomAD v4:
2-178593664-C-G
PubMed:
PMID:23396983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178593664C>G , CM000664.2:g.178593664C>G | GRCh38 |
| NC_000002.11:g.179458391C>G , CM000664.1:g.179458391C>G | GRCh37 |
| NC_000002.10:g.179166637C>G | NCBI36 |
| NG_011618.3:g.242139G>C , LRG_391:g.242139G>C | |
| NG_051363.1:g.75838C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.50932G>C (TTN) | ENSP00000343764.6:p.Glu16978Gln | |
| ENST00000342175.11:c.32017G>C (TTN) | ENSP00000340554.6:p.Glu10673Gln | |
| ENST00000359218.10:c.31816G>C (TTN) | ENSP00000352154.5:p.Glu10606Gln | |
| ENST00000342175.10:c.32017G>C (TTN) | ENSP00000340554.6:p.Glu10673Gln | |
| ENST00000342992.10:c.50932G>C (TTN) | ENSP00000343764.6:p.Glu16978Gln | |
| ENST00000359218.9:c.31816G>C (TTN) | ENSP00000352154.5:p.Glu10606Gln | |
| ENST00000460472.6:c.31441G>C (TTN) | ENSP00000434586.1:p.Glu10481Gln | |
| ENST00000589042.5:c.58636G>C (TTN) MANE Select | ENSP00000467141.1:p.Glu19546Gln | |
| ENST00000591111.5:c.53713G>C (TTN) | ENSP00000465570.1:p.Glu17905Gln | |
| ENST00000615779.4:c.53713G>C (TTN) | ENSP00000483597.1:p.Glu17905Gln | |
| NM_001256850.1:c.53713G>C (TTN) | NP_001243779.1:p.Glu17905Gln | |
| NM_001267550.2:c.58636G>C (TTN) MANE Select | NP_001254479.2:p.Glu19546Gln | |
| NM_003319.4:c.31441G>C (TTN) | NP_003310.4:p.Glu10481Gln | |
| NM_133378.4:c.50932G>C (TTN) | NP_596869.4:p.Glu16978Gln | |
| NM_133432.3:c.31816G>C (TTN) | NP_597676.3:p.Glu10606Gln | |
| NM_133437.4:c.32017G>C (TTN) | NP_597681.4:p.Glu10673Gln | |
| NR_038271.1:n.597-3932C>G (TTN-AS1) | ||
| NR_038272.1:n.3364+2350C>G (TTN-AS1) | ||
| XM_011511729.1:c.57733G>C (TTN) | XP_011510031.1:p.Glu19245Gln | |
| XM_011511730.1:c.31627G>C (TTN) | XP_011510032.1:p.Glu10543Gln | |
| XM_011511731.1:c.31486G>C (TTN) | XP_011510033.1:p.Glu10496Gln | |
| XM_017004819.1:c.57529G>C (TTN) | XP_016860308.1:p.Glu19177Gln | |
| XM_017004820.1:c.52927G>C (TTN) | XP_016860309.1:p.Glu17643Gln | |
| XM_017004821.1:c.52924G>C (TTN) | XP_016860310.1:p.Glu17642Gln | |
| XM_017004822.1:c.49966G>C (TTN) | XP_016860311.1:p.Glu16656Gln | |
| XM_017004823.1:c.31582G>C (TTN) | XP_016860312.1:p.Glu10528Gln | |
| XM_024453094.1:c.53077G>C (TTN) | XP_024308862.1:p.Glu17693Gln | |
| XM_024453095.1:c.53074G>C (TTN) | XP_024308863.1:p.Glu17692Gln | |
| XM_024453096.1:c.52507G>C (TTN) | XP_024308864.1:p.Glu17503Gln | |
| XM_024453097.1:c.49849G>C (TTN) | XP_024308865.1:p.Glu16617Gln | |
| XM_024453098.1:c.49768G>C (TTN) | XP_024308866.1:p.Glu16590Gln | |
| XM_024453099.1:c.31531G>C (TTN) | XP_024308867.1:p.Glu10511Gln | |
| XM_024453100.1:c.21385G>C (TTN) | XP_024308868.1:p.Glu7129Gln |