Linked Data
dbSNP Id:
rs1341848001
gnomAD v2:
22-51019874-G-A
gnomAD v3:
22-50581445-G-A
gnomAD v4:
22-50581445-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50581445G>A , CM000684.2:g.50581445G>A | GRCh38 |
| NC_000022.10:g.51019874G>A , CM000684.1:g.51019874G>A | GRCh37 |
| NC_000022.9:g.49366740G>A | NCBI36 |
| NG_012643.1:g.2223C>T | |
| NG_029213.1:g.6555C>T , LRG_855:g.6555C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.556C>T (CHKB) MANE Select | ENSP00000384400.3:p.His186Tyr | |
| ENST00000406938.2:c.556C>T (CHKB) | ENSP00000384400.2:p.His186Tyr | |
| ENST00000463053.1:n.705C>T (CHKB) | ||
| ENST00000468532.5:n.433C>T (CHKB) | ||
| ENST00000476289.5:n.829C>T (CHKB) | ||
| ENST00000479003.5:n.1181C>T (CHKB) | ||
| ENST00000481673.5:n.1006C>T (CHKB) | ||
| ENST00000484266.5:n.577-785C>T (CHKB) | ||
| ENST00000492556.5:n.1326C>T (CHKB-CPT1B) | ||
| ENST00000492582.5:n.1215C>T (CHKB) | ||
| NM_005198.4:c.556C>T , LRG_855t1:c.556C>T (CHKB) | NP_005189.2:p.His186Tyr | |
| NR_027928.2:n.774C>T (CHKB-CPT1B) | ||
| NM_005198.5:c.556C>T (CHKB) MANE Select | NP_005189.2:p.His186Tyr |