Linked Data
ClinVar Variation Id:
527367
ClinVar RCV Id:
RCV000632226
dbSNP Id:
rs1554099371
gnomAD v4:
5-132609183-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609183C>A , CM000667.2:g.132609183C>A | GRCh38 |
| NC_000005.9:g.131944875C>A , CM000667.1:g.131944875C>A | GRCh37 |
| NC_000005.8:g.131972774C>A | NCBI36 |
| NG_021151.1:g.57260C>A | |
| NG_021151.2:g.57207C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2896C>A MANE Select | ENSP00000368100.4:p.Gln966Lys | |
| ENST00000638452.2:c.2599C>A | ENSP00000492349.2:p.Gln867Lys | |
| ENST00000638504.1:n.2504C>A | ||
| ENST00000638568.2:c.2599C>A | ENSP00000491158.2:p.Gln867Lys | |
| ENST00000639899.1:n.3415C>A | ||
| ENST00000640655.2:c.2599C>A | ENSP00000491596.2:p.Gln867Lys | |
| ENST00000651160.1:c.*1040C>A | ENSP00000498829.1:n.*1040C>A | |
| ENST00000651723.1:c.*2979C>A | ENSP00000498237.1:n.*2979C>A | |
| ENST00000378823.7:c.2896C>A | ENSP00000368100.4:p.Gln966Lys | |
| ENST00000423956.5:c.*1082C>A | ENSP00000390971.1:n.*1082C>A | |
| ENST00000533482.5:c.*2522C>A | ENSP00000431225.1:n.*2522C>A | |
| NM_005732.3:c.2896C>A | NP_005723.2:p.Gln966Lys | |
| NM_005732.4:c.2896C>A MANE Select | NP_005723.2:p.Gln966Lys |