Linked Data
ClinVar Variation Id:
128729
dbSNP Id:
rs86337
ExAC:
22:51020668 C / A
gnomAD v2:
22-51020668-C-A
gnomAD v3:
22-50582239-C-A
gnomAD v4:
22-50582239-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582239C>A , CM000684.2:g.50582239C>A | GRCh38 |
| NC_000022.10:g.51020668C>A , CM000684.1:g.51020668C>A | GRCh37 |
| NC_000022.9:g.49367534C>A | NCBI36 |
| NG_012643.1:g.1429G>T | |
| NG_029213.1:g.5761G>T , LRG_855:g.5761G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.333+10G>T (CHKB) MANE Select | ENSP00000384400.3:n.333+10G>T | |
| ENST00000406938.2:c.333+10G>T (CHKB) | ENSP00000384400.2:n.333+10G>T | |
| ENST00000463053.1:n.415+10G>T (CHKB) | ||
| ENST00000465842.1:n.172+10G>T (CHKB) | ||
| ENST00000468532.5:n.210+10G>T (CHKB) | ||
| ENST00000476289.5:n.606+10G>T (CHKB) | ||
| ENST00000479003.5:n.582G>T (CHKB) | ||
| ENST00000481673.5:n.407G>T (CHKB) | ||
| ENST00000484266.5:n.576+10G>T (CHKB) | ||
| ENST00000492556.5:n.727G>T (CHKB-CPT1B) | ||
| ENST00000492582.5:n.616G>T (CHKB) | ||
| NM_005198.4:c.333+10G>T , LRG_855t1:c.333+10G>T (CHKB) | NP_005189.2:n.333+10G>T | |
| NR_027928.2:n.551+10G>T (CHKB-CPT1B) | ||
| NM_005198.5:c.333+10G>T (CHKB) MANE Select | NP_005189.2:n.333+10G>T |