Linked Data
ClinVar Variation Id:
949078
ClinVar RCV Id:
RCV001220460
dbSNP Id:
rs1751036957
gnomAD v4:
5-132609121-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132609121A>G , CM000667.2:g.132609121A>G | GRCh38 |
| NC_000005.9:g.131944813A>G , CM000667.1:g.131944813A>G | GRCh37 |
| NC_000005.8:g.131972712A>G | NCBI36 |
| NG_021151.1:g.57198A>G | |
| NG_021151.2:g.57145A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378823.8:c.2834A>G MANE Select | ENSP00000368100.4:p.Asn945Ser | |
| ENST00000638452.2:c.2537A>G | ENSP00000492349.2:p.Asn846Ser | |
| ENST00000638504.1:n.2442A>G | ||
| ENST00000638568.2:c.2537A>G | ENSP00000491158.2:p.Asn846Ser | |
| ENST00000639899.1:n.3353A>G | ||
| ENST00000640655.2:c.2537A>G | ENSP00000491596.2:p.Asn846Ser | |
| ENST00000651160.1:c.*978A>G | ENSP00000498829.1:n.*978A>G | |
| ENST00000651723.1:c.*2917A>G | ENSP00000498237.1:n.*2917A>G | |
| ENST00000378823.7:c.2834A>G | ENSP00000368100.4:p.Asn945Ser | |
| ENST00000423956.5:c.*1020A>G | ENSP00000390971.1:n.*1020A>G | |
| ENST00000533482.5:c.*2460A>G | ENSP00000431225.1:n.*2460A>G | |
| NM_005732.3:c.2834A>G | NP_005723.2:p.Asn945Ser | |
| NM_005732.4:c.2834A>G MANE Select | NP_005723.2:p.Asn945Ser |