Linked Data
ClinVar Variation Id:
1018427
ClinVar RCV Id:
RCV001317725
dbSNP Id:
rs1750954067
gnomAD v4:
5-132604862-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132604862C>G , CM000667.2:g.132604862C>G | GRCh38 |
| NC_000005.9:g.131940554C>G , CM000667.1:g.131940554C>G | GRCh37 |
| NC_000005.8:g.131968453C>G | NCBI36 |
| NG_021151.1:g.52939C>G | |
| NG_021151.2:g.52886C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2581C>G MANE Select | ENSP00000368100.4:p.Gln861Glu | |
| ENST00000638452.2:c.2284C>G | ENSP00000492349.2:p.Gln762Glu | |
| ENST00000638504.1:n.2189C>G | ||
| ENST00000638568.2:c.2284C>G | ENSP00000491158.2:p.Gln762Glu | |
| ENST00000639899.1:n.3100C>G | ||
| ENST00000640655.2:c.2284C>G | ENSP00000491596.2:p.Gln762Glu | |
| ENST00000651160.1:c.*725C>G | ENSP00000498829.1:n.*725C>G | |
| ENST00000651723.1:c.*2664C>G | ENSP00000498237.1:n.*2664C>G | |
| ENST00000652016.1:c.*798C>G | ENSP00000498267.1:n.*798C>G | |
| ENST00000652485.1:c.2614C>G | ENSP00000498973.1:p.Gln872Glu | |
| ENST00000378823.7:c.2581C>G | ENSP00000368100.4:p.Gln861Glu | |
| ENST00000423956.5:c.*767C>G | ENSP00000390971.1:n.*767C>G | |
| ENST00000533482.5:c.*2207C>G | ENSP00000431225.1:n.*2207C>G | |
| NM_005732.3:c.2581C>G | NP_005723.2:p.Gln861Glu | |
| NM_005732.4:c.2581C>G MANE Select | NP_005723.2:p.Gln861Glu |