Linked Data
ClinVar Variation Id:
30955
ClinVar RCV Id:
RCV000023945
dbSNP Id:
rs387907069
PubMed:
PMID:21665002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50579979G>A , CM000684.2:g.50579979G>A | GRCh38 |
| NC_000022.10:g.51018408G>A , CM000684.1:g.51018408G>A | GRCh37 |
| NC_000022.9:g.49365274G>A | NCBI36 |
| NG_012643.1:g.3689C>T | |
| NG_029213.1:g.8021C>T , LRG_855:g.8021C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000406938.3:c.922C>T (CHKB) MANE Select | ENSP00000384400.3:p.Gln308Ter | |
| ENST00000406938.2:c.922C>T (CHKB) | ENSP00000384400.2:p.Gln308Ter | |
| ENST00000452668.1:n.21C>T (CHKB-CPT1B) | ||
| ENST00000464225.5:n.168C>T (CHKB) | ||
| ENST00000468532.5:n.885C>T (CHKB) | ||
| ENST00000471515.5:n.206+78C>T (CHKB) | ||
| ENST00000479003.5:n.1633C>T (CHKB) | ||
| ENST00000481673.5:n.1372C>T (CHKB) | ||
| ENST00000484266.5:n.917C>T (CHKB) | ||
| ENST00000489453.1:n.547C>T (CHKB) | ||
| ENST00000492556.5:n.1778C>T (CHKB-CPT1B) | ||
| ENST00000492582.5:n.1581C>T (CHKB) | ||
| NM_005198.4:c.922C>T , LRG_855t1:c.922C>T (CHKB) | NP_005189.2:p.Gln308Ter | |
| NR_027928.2:n.1140C>T (CHKB-CPT1B) | ||
| NM_005198.5:c.922C>T (CHKB) MANE Select | NP_005189.2:p.Gln308Ter |