Linked Data
ClinVar Variation Id:
38255
dbSNP Id:
rs80359233
ExAC:
13:32971149 C / G
gnomAD v2:
13-32971149-C-G
gnomAD v3:
13-32397012-C-G
gnomAD v4:
13-32397012-C-G
PubMed:
PMID:10923033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32397012C>G , CM000675.2:g.32397012C>G | GRCh38 |
| NC_000013.10:g.32971149C>G , CM000675.1:g.32971149C>G | GRCh37 |
| NC_000013.9:g.31869149C>G | NCBI36 |
| NG_012772.3:g.86533C>G , LRG_293:g.86533C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*139C>G | ENSP00000434898.2:n.*139C>G | |
| ENST00000528762.2:c.*983C>G | ENSP00000433168.2:n.*983C>G | |
| ENST00000530893.7:c.9247C>G | ENSP00000499438.2:p.Gln3083Glu | |
| ENST00000665585.2:c.*1178C>G | ENSP00000499570.2:n.*1178C>G | |
| ENST00000700202.2:c.9565C>G | ENSP00000514856.2:p.Gln3189Glu | |
| ENST00000700202.1:c.2032C>G | ENSP00000514856.1:p.Gln678Glu | |
| ENST00000700203.1:n.1743C>G | ||
| ENST00000380152.8:c.9616C>G MANE Select | ENSP00000369497.3:p.Gln3206Glu | |
| ENST00000544455.6:c.9616C>G | ENSP00000439902.1:p.Gln3206Glu | |
| ENST00000614259.2:c.9624C>G | ENSP00000506251.1:n.9624C>G | |
| ENST00000665585.1:c.2494C>G | ||
| ENST00000680887.1:c.9616C>G | ENSP00000505508.1:p.Gln3206Glu | |
| ENST00000380152.7:c.9616C>G | ENSP00000369497.3:p.Gln3206Glu | |
| ENST00000470094.1:c.699C>G | ||
| ENST00000533776.1:n.204C>G | ||
| ENST00000544455.5:c.9616C>G | ENSP00000439902.1:p.Gln3206Glu | |
| NM_000059.3:c.9616C>G , LRG_293t1:c.9616C>G | NP_000050.2:p.Gln3206Glu | |
| XM_011535203.1:c.9616C>G | XP_011533505.1:p.Gln3206Glu | |
| XM_011535204.1:c.9520C>G | XP_011533506.1:p.Gln3174Glu | |
| NM_000059.4:c.9616C>G MANE Select | NP_000050.3:p.Gln3206Glu |