gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50580356A>G , CM000684.2:g.50580356A>G | GRCh38 |
| NC_000022.10:g.51018785A>G , CM000684.1:g.51018785A>G | GRCh37 |
| NC_000022.9:g.49365651A>G | NCBI36 |
| NG_012643.1:g.3312T>C | |
| NG_029213.1:g.7644T>C , LRG_855:g.7644T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.736+2T>C (CHKB) MANE Select | ENSP00000384400.3:n.736+2T>C | |
| ENST00000406938.2:c.736+2T>C (CHKB) | ENSP00000384400.2:n.736+2T>C | |
| ENST00000468532.5:n.615T>C (CHKB) | ||
| ENST00000471515.5:n.98+2T>C (CHKB) | ||
| ENST00000479003.5:n.1363T>C (CHKB) | ||
| ENST00000481673.5:n.1186+2T>C (CHKB) | ||
| ENST00000484266.5:n.731+2T>C (CHKB) | ||
| ENST00000489453.1:n.277T>C (CHKB) | ||
| ENST00000492556.5:n.1508T>C (CHKB-CPT1B) | ||
| ENST00000492582.5:n.1395+2T>C (CHKB) | ||
| NM_005198.4:c.736+2T>C , LRG_855t1:c.736+2T>C (CHKB) | NP_005189.2:n.736+2T>C | |
| NR_027928.2:n.954+2T>C (CHKB-CPT1B) | ||
| NM_005198.5:c.736+2T>C (CHKB) MANE Select | NP_005189.2:n.736+2T>C |