Linked Data
ClinVar Variation Id:
711487
ClinVar RCV Id:
RCV001455533
dbSNP Id:
rs1603443779
gnomAD v4:
22-50582327-G-A
COSMIC:
COSM1417178
MyVariant Identifiers:
chr22:g.51020756G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582327G>A , CM000684.2:g.50582327G>A | GRCh38 |
| NC_000022.10:g.51020756G>A , CM000684.1:g.51020756G>A | GRCh37 |
| NC_000022.9:g.49367622G>A | NCBI36 |
| NG_012643.1:g.1341C>T | |
| NG_029213.1:g.5673C>T , LRG_855:g.5673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.255C>T (CHKB) MANE Select | ENSP00000384400.3:p.Cys85= | |
| ENST00000406938.2:c.255C>T (CHKB) | ENSP00000384400.2:p.Cys85= | |
| ENST00000463053.1:n.337C>T (CHKB) | ||
| ENST00000465842.1:n.94C>T (CHKB) | ||
| ENST00000468532.5:n.132C>T (CHKB) | ||
| ENST00000476289.5:n.528C>T (CHKB) | ||
| ENST00000479003.5:n.494C>T (CHKB) | ||
| ENST00000481673.5:n.319C>T (CHKB) | ||
| ENST00000484266.5:n.498C>T (CHKB) | ||
| ENST00000492556.5:n.639C>T (CHKB-CPT1B) | ||
| ENST00000492582.5:n.528C>T (CHKB) | ||
| NM_005198.4:c.255C>T , LRG_855t1:c.255C>T (CHKB) | NP_005189.2:p.Cys85= | |
| NR_027928.2:n.473C>T (CHKB-CPT1B) | ||
| NM_005198.5:c.255C>T (CHKB) MANE Select | NP_005189.2:p.Cys85= |