Linked Data
dbSNP Id:
rs1445379653
gnomAD v2:
22-51020489-G-A
gnomAD v3:
22-50582060-G-A
gnomAD v4:
22-50582060-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582060G>A , CM000684.2:g.50582060G>A | GRCh38 |
| NC_000022.10:g.51020489G>A , CM000684.1:g.51020489G>A | GRCh37 |
| NC_000022.9:g.49367355G>A | NCBI36 |
| NG_012643.1:g.1608C>T | |
| NG_029213.1:g.5940C>T , LRG_855:g.5940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.333+189C>T (CHKB) MANE Select | ENSP00000384400.3:n.333+189C>T | |
| ENST00000406938.2:c.333+189C>T (CHKB) | ENSP00000384400.2:n.333+189C>T | |
| ENST00000463053.1:n.451C>T (CHKB) | ||
| ENST00000465842.1:n.172+189C>T (CHKB) | ||
| ENST00000468532.5:n.210+189C>T (CHKB) | ||
| ENST00000476289.5:n.606+189C>T (CHKB) | ||
| ENST00000479003.5:n.761C>T (CHKB) | ||
| ENST00000481673.5:n.586C>T (CHKB) | ||
| ENST00000484266.5:n.576+189C>T (CHKB) | ||
| ENST00000492556.5:n.906C>T (CHKB-CPT1B) | ||
| ENST00000492582.5:n.795C>T (CHKB) | ||
| NM_005198.4:c.333+189C>T , LRG_855t1:c.333+189C>T (CHKB) | NP_005189.2:n.333+189C>T | |
| NR_027928.2:n.551+189C>T (CHKB-CPT1B) | ||
| NM_005198.5:c.333+189C>T (CHKB) MANE Select | NP_005189.2:n.333+189C>T |