Linked Data
ClinVar Variation Id:
421711
dbSNP Id:
rs547428711
ExAC:
22:51020749 G / C
gnomAD v2:
22-51020749-G-C
gnomAD v3:
22-50582320-G-C
gnomAD v4:
22-50582320-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582320G>C , CM000684.2:g.50582320G>C | GRCh38 |
| NC_000022.10:g.51020749G>C , CM000684.1:g.51020749G>C | GRCh37 |
| NC_000022.9:g.49367615G>C | NCBI36 |
| NG_012643.1:g.1348C>G | |
| NG_029213.1:g.5680C>G , LRG_855:g.5680C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406938.3:c.262C>G (CHKB) MANE Select | ENSP00000384400.3:p.Pro88Ala | |
| ENST00000406938.2:c.262C>G (CHKB) | ENSP00000384400.2:p.Pro88Ala | |
| ENST00000463053.1:n.344C>G (CHKB) | ||
| ENST00000465842.1:n.101C>G (CHKB) | ||
| ENST00000468532.5:n.139C>G (CHKB) | ||
| ENST00000476289.5:n.535C>G (CHKB) | ||
| ENST00000479003.5:n.501C>G (CHKB) | ||
| ENST00000481673.5:n.326C>G (CHKB) | ||
| ENST00000484266.5:n.505C>G (CHKB) | ||
| ENST00000492556.5:n.646C>G (CHKB-CPT1B) | ||
| ENST00000492582.5:n.535C>G (CHKB) | ||
| NM_005198.4:c.262C>G , LRG_855t1:c.262C>G (CHKB) | NP_005189.2:p.Pro88Ala | |
| NR_027928.2:n.480C>G (CHKB-CPT1B) | ||
| NM_005198.5:c.262C>G (CHKB) MANE Select | NP_005189.2:p.Pro88Ala |