Linked Data
dbSNP Id:
rs901508053
gnomAD v2:
22-51019908-A-C
gnomAD v3:
22-50581479-A-C
gnomAD v4:
22-50581479-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50581479A>C , CM000684.2:g.50581479A>C | GRCh38 |
| NC_000022.10:g.51019908A>C , CM000684.1:g.51019908A>C | GRCh37 |
| NC_000022.9:g.49366774A>C | NCBI36 |
| NG_012643.1:g.2189T>G | |
| NG_029213.1:g.6521T>G , LRG_855:g.6521T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.522T>G (CHKB) MANE Select | ENSP00000384400.3:p.Phe174Leu | |
| ENST00000406938.2:c.522T>G (CHKB) | ENSP00000384400.2:p.Phe174Leu | |
| ENST00000463053.1:n.671T>G (CHKB) | ||
| ENST00000468532.5:n.399T>G (CHKB) | ||
| ENST00000476289.5:n.795T>G (CHKB) | ||
| ENST00000479003.5:n.1147T>G (CHKB) | ||
| ENST00000481673.5:n.972T>G (CHKB) | ||
| ENST00000484266.5:n.576+770T>G (CHKB) | ||
| ENST00000492556.5:n.1292T>G (CHKB-CPT1B) | ||
| ENST00000492582.5:n.1181T>G (CHKB) | ||
| NM_005198.4:c.522T>G , LRG_855t1:c.522T>G (CHKB) | NP_005189.2:p.Phe174Leu | |
| NR_027928.2:n.740T>G (CHKB-CPT1B) | ||
| NM_005198.5:c.522T>G (CHKB) MANE Select | NP_005189.2:p.Phe174Leu |