Linked Data
dbSNP Id:
rs774901785
ExAC:
22:51020772 T / C
gnomAD v2:
22-51020772-T-C
gnomAD v3:
22-50582343-T-C
gnomAD v4:
22-50582343-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582343T>C , CM000684.2:g.50582343T>C | GRCh38 |
| NC_000022.10:g.51020772T>C , CM000684.1:g.51020772T>C | GRCh37 |
| NC_000022.9:g.49367638T>C | NCBI36 |
| NG_012643.1:g.1325A>G | |
| NG_029213.1:g.5657A>G , LRG_855:g.5657A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.239A>G (CHKB) MANE Select | ENSP00000384400.3:p.Asn80Ser | |
| ENST00000406938.2:c.239A>G (CHKB) | ENSP00000384400.2:p.Asn80Ser | |
| ENST00000463053.1:n.321A>G (CHKB) | ||
| ENST00000465842.1:n.78A>G (CHKB) | ||
| ENST00000468532.5:n.116A>G (CHKB) | ||
| ENST00000476289.5:n.512A>G (CHKB) | ||
| ENST00000479003.5:n.478A>G (CHKB) | ||
| ENST00000481673.5:n.303A>G (CHKB) | ||
| ENST00000484266.5:n.482A>G (CHKB) | ||
| ENST00000492556.5:n.623A>G (CHKB-CPT1B) | ||
| ENST00000492582.5:n.512A>G (CHKB) | ||
| NM_005198.4:c.239A>G , LRG_855t1:c.239A>G (CHKB) | NP_005189.2:p.Asn80Ser | |
| NR_027928.2:n.457A>G (CHKB-CPT1B) | ||
| NM_005198.5:c.239A>G (CHKB) MANE Select | NP_005189.2:p.Asn80Ser |