Linked Data
dbSNP Id:
rs1343848310
gnomAD v2:
22-51020449-G-C
gnomAD v3:
22-50582020-G-C
gnomAD v4:
22-50582020-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582020G>C , CM000684.2:g.50582020G>C | GRCh38 |
| NC_000022.10:g.51020449G>C , CM000684.1:g.51020449G>C | GRCh37 |
| NC_000022.9:g.49367315G>C | NCBI36 |
| NG_012643.1:g.1648C>G | |
| NG_029213.1:g.5980C>G , LRG_855:g.5980C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.334-158C>G (CHKB) MANE Select | ENSP00000384400.3:n.334-158C>G | |
| ENST00000406938.2:c.334-158C>G (CHKB) | ENSP00000384400.2:n.334-158C>G | |
| ENST00000463053.1:n.482+9C>G (CHKB) | ||
| ENST00000465842.1:n.173-158C>G (CHKB) | ||
| ENST00000468532.5:n.211-158C>G (CHKB) | ||
| ENST00000476289.5:n.607-158C>G (CHKB) | ||
| ENST00000479003.5:n.801C>G (CHKB) | ||
| ENST00000481673.5:n.626C>G (CHKB) | ||
| ENST00000484266.5:n.576+229C>G (CHKB) | ||
| ENST00000492556.5:n.946C>G (CHKB-CPT1B) | ||
| ENST00000492582.5:n.835C>G (CHKB) | ||
| NM_005198.4:c.334-158C>G , LRG_855t1:c.334-158C>G (CHKB) | NP_005189.2:n.334-158C>G | |
| NR_027928.2:n.552-158C>G (CHKB-CPT1B) | ||
| NM_005198.5:c.334-158C>G (CHKB) MANE Select | NP_005189.2:n.334-158C>G |