Linked Data
ClinVar Variation Id:
767630
ClinVar RCV Id:
RCV002066257
dbSNP Id:
rs376846624
ExAC:
22:51020732 G / A
gnomAD v2:
22-51020732-G-A
gnomAD v3:
22-50582303-G-A
gnomAD v4:
22-50582303-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582303G>A , CM000684.2:g.50582303G>A | GRCh38 |
| NC_000022.10:g.51020732G>A , CM000684.1:g.51020732G>A | GRCh37 |
| NC_000022.9:g.49367598G>A | NCBI36 |
| NG_012643.1:g.1365C>T | |
| NG_029213.1:g.5697C>T , LRG_855:g.5697C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.279C>T (CHKB) MANE Select | ENSP00000384400.3:p.Ser93= | |
| ENST00000406938.2:c.279C>T (CHKB) | ENSP00000384400.2:p.Ser93= | |
| ENST00000463053.1:n.361C>T (CHKB) | ||
| ENST00000465842.1:n.118C>T (CHKB) | ||
| ENST00000468532.5:n.156C>T (CHKB) | ||
| ENST00000476289.5:n.552C>T (CHKB) | ||
| ENST00000479003.5:n.518C>T (CHKB) | ||
| ENST00000481673.5:n.343C>T (CHKB) | ||
| ENST00000484266.5:n.522C>T (CHKB) | ||
| ENST00000492556.5:n.663C>T (CHKB-CPT1B) | ||
| ENST00000492582.5:n.552C>T (CHKB) | ||
| NM_005198.4:c.279C>T , LRG_855t1:c.279C>T (CHKB) | NP_005189.2:p.Ser93= | |
| NR_027928.2:n.497C>T (CHKB-CPT1B) | ||
| NM_005198.5:c.279C>T (CHKB) MANE Select | NP_005189.2:p.Ser93= |