Linked Data
ClinVar Variation Id:
2105623
ClinVar RCV Id:
RCV003023549
dbSNP Id:
rs1284516800
gnomAD v2:
22-51019980-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50581551A>C , CM000684.2:g.50581551A>C | GRCh38 |
| NC_000022.10:g.51019980A>C , CM000684.1:g.51019980A>C | GRCh37 |
| NC_000022.9:g.49366846A>C | NCBI36 |
| NG_012643.1:g.2117T>G | |
| NG_029213.1:g.6449T>G , LRG_855:g.6449T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.450T>G (CHKB) MANE Select | ENSP00000384400.3:p.Ser150Arg | |
| ENST00000406938.2:c.450T>G (CHKB) | ENSP00000384400.2:p.Ser150Arg | |
| ENST00000463053.1:n.599T>G (CHKB) | ||
| ENST00000468532.5:n.327T>G (CHKB) | ||
| ENST00000476289.5:n.723T>G (CHKB) | ||
| ENST00000479003.5:n.1075T>G (CHKB) | ||
| ENST00000481673.5:n.900T>G (CHKB) | ||
| ENST00000484266.5:n.576+698T>G (CHKB) | ||
| ENST00000492556.5:n.1220T>G (CHKB-CPT1B) | ||
| ENST00000492582.5:n.1109T>G (CHKB) | ||
| NM_005198.4:c.450T>G , LRG_855t1:c.450T>G (CHKB) | NP_005189.2:p.Ser150Arg | |
| NR_027928.2:n.668T>G (CHKB-CPT1B) | ||
| NM_005198.5:c.450T>G (CHKB) MANE Select | NP_005189.2:p.Ser150Arg |