Linked Data
ClinVar Variation Id:
529229
dbSNP Id:
rs200401846
ExAC:
22:32495259 A / G
gnomAD v2:
22-32495259-A-G
gnomAD v4:
22-32099272-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32099272A>G , CM000684.2:g.32099272A>G | GRCh38 |
| NC_000022.10:g.32495259A>G , CM000684.1:g.32495259A>G | GRCh37 |
| NC_000022.9:g.30825259A>G | NCBI36 |
| NG_017045.1:g.61241A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.1370A>G MANE Select | ENSP00000266088.4:p.Gln457Arg | |
| ENST00000266088.8:c.1370A>G | ENSP00000266088.4:p.Gln457Arg | |
| ENST00000477969.1:n.536A>G | ||
| ENST00000543737.2:c.989A>G | ENSP00000444898.1:p.Gln330Arg | |
| NM_000343.3:c.1370A>G | NP_000334.1:p.Gln457Arg | |
| NM_001256314.1:c.989A>G | NP_001243243.1:p.Gln330Arg | |
| XM_011530331.1:c.1281-2750A>G | XP_011528633.1:n.1281-2750A>G | |
| XR_938173.1:n.591+7566T>C | ||
| XR_938174.1:n.486+20583T>C | ||
| NM_000343.4:c.1370A>G MANE Select | NP_000334.1:p.Gln457Arg | |
| NM_001256314.2:c.989A>G | NP_001243243.1:p.Gln330Arg |