Linked Data
dbSNP Id:
rs757942378
ExAC:
22:51019891 G / A
gnomAD v2:
22-51019891-G-A
gnomAD v4:
22-50581462-G-A
COSMIC:
COSM4672168
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50581462G>A , CM000684.2:g.50581462G>A | GRCh38 |
| NC_000022.10:g.51019891G>A , CM000684.1:g.51019891G>A | GRCh37 |
| NC_000022.9:g.49366757G>A | NCBI36 |
| NG_012643.1:g.2206C>T | |
| NG_029213.1:g.6538C>T , LRG_855:g.6538C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.539C>T (CHKB) MANE Select | ENSP00000384400.3:p.Pro180Leu | |
| ENST00000406938.2:c.539C>T (CHKB) | ENSP00000384400.2:p.Pro180Leu | |
| ENST00000463053.1:n.688C>T (CHKB) | ||
| ENST00000468532.5:n.416C>T (CHKB) | ||
| ENST00000476289.5:n.812C>T (CHKB) | ||
| ENST00000479003.5:n.1164C>T (CHKB) | ||
| ENST00000481673.5:n.989C>T (CHKB) | ||
| ENST00000484266.5:n.576+787C>T (CHKB) | ||
| ENST00000492556.5:n.1309C>T (CHKB-CPT1B) | ||
| ENST00000492582.5:n.1198C>T (CHKB) | ||
| NM_005198.4:c.539C>T , LRG_855t1:c.539C>T (CHKB) | NP_005189.2:p.Pro180Leu | |
| NR_027928.2:n.757C>T (CHKB-CPT1B) | ||
| NM_005198.5:c.539C>T (CHKB) MANE Select | NP_005189.2:p.Pro180Leu |