Linked Data
ClinVar Variation Id:
2229220
dbSNP Id:
rs1177999891
gnomAD v2:
22-51020751-A-G
gnomAD v3:
22-50582322-A-G
gnomAD v4:
22-50582322-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582322A>G , CM000684.2:g.50582322A>G | GRCh38 |
| NC_000022.10:g.51020751A>G , CM000684.1:g.51020751A>G | GRCh37 |
| NC_000022.9:g.49367617A>G | NCBI36 |
| NG_012643.1:g.1346T>C | |
| NG_029213.1:g.5678T>C , LRG_855:g.5678T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.260T>C (CHKB) MANE Select | ENSP00000384400.3:p.Leu87Pro | |
| ENST00000406938.2:c.260T>C (CHKB) | ENSP00000384400.2:p.Leu87Pro | |
| ENST00000463053.1:n.342T>C (CHKB) | ||
| ENST00000465842.1:n.99T>C (CHKB) | ||
| ENST00000468532.5:n.137T>C (CHKB) | ||
| ENST00000476289.5:n.533T>C (CHKB) | ||
| ENST00000479003.5:n.499T>C (CHKB) | ||
| ENST00000481673.5:n.324T>C (CHKB) | ||
| ENST00000484266.5:n.503T>C (CHKB) | ||
| ENST00000492556.5:n.644T>C (CHKB-CPT1B) | ||
| ENST00000492582.5:n.533T>C (CHKB) | ||
| NM_005198.4:c.260T>C , LRG_855t1:c.260T>C (CHKB) | NP_005189.2:p.Leu87Pro | |
| NR_027928.2:n.478T>C (CHKB-CPT1B) | ||
| NM_005198.5:c.260T>C (CHKB) MANE Select | NP_005189.2:p.Leu87Pro |