Linked Data
dbSNP Id:
rs535164638
gnomAD v2:
22-51020515-T-A
gnomAD v3:
22-50582086-T-A
gnomAD v4:
22-50582086-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582086T>A , CM000684.2:g.50582086T>A | GRCh38 |
| NC_000022.10:g.51020515T>A , CM000684.1:g.51020515T>A | GRCh37 |
| NC_000022.9:g.49367381T>A | NCBI36 |
| NG_012643.1:g.1582A>T | |
| NG_029213.1:g.5914A>T , LRG_855:g.5914A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.333+163A>T (CHKB) MANE Select | ENSP00000384400.3:n.333+163A>T | |
| ENST00000406938.2:c.333+163A>T (CHKB) | ENSP00000384400.2:n.333+163A>T | |
| ENST00000463053.1:n.425A>T (CHKB) | ||
| ENST00000465842.1:n.172+163A>T (CHKB) | ||
| ENST00000468532.5:n.210+163A>T (CHKB) | ||
| ENST00000476289.5:n.606+163A>T (CHKB) | ||
| ENST00000479003.5:n.735A>T (CHKB) | ||
| ENST00000481673.5:n.560A>T (CHKB) | ||
| ENST00000484266.5:n.576+163A>T (CHKB) | ||
| ENST00000492556.5:n.880A>T (CHKB-CPT1B) | ||
| ENST00000492582.5:n.769A>T (CHKB) | ||
| NM_005198.4:c.333+163A>T , LRG_855t1:c.333+163A>T (CHKB) | NP_005189.2:n.333+163A>T | |
| NR_027928.2:n.551+163A>T (CHKB-CPT1B) | ||
| NM_005198.5:c.333+163A>T (CHKB) MANE Select | NP_005189.2:n.333+163A>T |