Linked Data
ClinVar Variation Id:
1152131
ClinVar RCV Id:
RCV001493317
dbSNP Id:
rs2146657812
gnomAD v4:
22-50582321-G-A
MyVariant Identifiers:
chr22:g.51020750G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582321G>A , CM000684.2:g.50582321G>A | GRCh38 |
| NC_000022.10:g.51020750G>A , CM000684.1:g.51020750G>A | GRCh37 |
| NC_000022.9:g.49367616G>A | NCBI36 |
| NG_012643.1:g.1347C>T | |
| NG_029213.1:g.5679C>T , LRG_855:g.5679C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.261C>T (CHKB) MANE Select | ENSP00000384400.3:p.Leu87= | |
| ENST00000406938.2:c.261C>T (CHKB) | ENSP00000384400.2:p.Leu87= | |
| ENST00000463053.1:n.343C>T (CHKB) | ||
| ENST00000465842.1:n.100C>T (CHKB) | ||
| ENST00000468532.5:n.138C>T (CHKB) | ||
| ENST00000476289.5:n.534C>T (CHKB) | ||
| ENST00000479003.5:n.500C>T (CHKB) | ||
| ENST00000481673.5:n.325C>T (CHKB) | ||
| ENST00000484266.5:n.504C>T (CHKB) | ||
| ENST00000492556.5:n.645C>T (CHKB-CPT1B) | ||
| ENST00000492582.5:n.534C>T (CHKB) | ||
| NM_005198.4:c.261C>T , LRG_855t1:c.261C>T (CHKB) | NP_005189.2:p.Leu87= | |
| NR_027928.2:n.479C>T (CHKB-CPT1B) | ||
| NM_005198.5:c.261C>T (CHKB) MANE Select | NP_005189.2:p.Leu87= |