Linked Data
ClinVar Variation Id:
529487
ClinVar RCV Id:
RCV000634939
dbSNP Id:
rs776978579
ExAC:
6:24533810 A / G
gnomAD v2:
6-24533810-A-G
gnomAD v4:
6-24533582-A-G
COSMIC:
COSM6354825
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24533582A>G , CM000668.2:g.24533582A>G | GRCh38 |
| NC_000006.11:g.24533810A>G , CM000668.1:g.24533810A>G | GRCh37 |
| NC_000006.10:g.24641789A>G | NCBI36 |
| NG_008161.1:g.43614A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.1478A>G MANE Select | ENSP00000350191.3:p.Asn493Ser | |
| ENST00000479394.2:n.593A>G | ||
| ENST00000672352.1:c.1097A>G | ENSP00000500876.1:p.Asn366Ser | |
| ENST00000672652.1:c.1441A>G | ||
| ENST00000348925.2:c.1517A>G | ENSP00000314649.3:p.Asn506Ser | |
| ENST00000357578.7:c.1478A>G | ENSP00000350191.3:p.Asn493Ser | |
| ENST00000479394.1:n.593A>G | ||
| ENST00000491546.5:c.1394A>G | ENSP00000417687.1:p.Asn465Ser | |
| ENST00000492697.1:n.244A>G | ||
| NM_001080.3:c.1478A>G MANE Select | NP_001071.1:p.Asn493Ser | |
| NM_170740.1:c.1517A>G | NP_733936.1:p.Asn506Ser | |
| NM_001368954.1:c.1334A>G | NP_001355883.1:p.Asn445Ser |