Linked Data
ClinVar Variation Id:
514225
dbSNP Id:
rs200220080
ExAC:
22:51019914 C / T
gnomAD v2:
22-51019914-C-T
gnomAD v3:
22-50581485-C-T
gnomAD v4:
22-50581485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50581485C>T , CM000684.2:g.50581485C>T | GRCh38 |
| NC_000022.10:g.51019914C>T , CM000684.1:g.51019914C>T | GRCh37 |
| NC_000022.9:g.49366780C>T | NCBI36 |
| NG_012643.1:g.2183G>A | |
| NG_029213.1:g.6515G>A , LRG_855:g.6515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.516G>A (CHKB) MANE Select | ENSP00000384400.3:p.Ala172= | |
| ENST00000406938.2:c.516G>A (CHKB) | ENSP00000384400.2:p.Ala172= | |
| ENST00000463053.1:n.665G>A (CHKB) | ||
| ENST00000468532.5:n.393G>A (CHKB) | ||
| ENST00000476289.5:n.789G>A (CHKB) | ||
| ENST00000479003.5:n.1141G>A (CHKB) | ||
| ENST00000481673.5:n.966G>A (CHKB) | ||
| ENST00000484266.5:n.576+764G>A (CHKB) | ||
| ENST00000492556.5:n.1286G>A (CHKB-CPT1B) | ||
| ENST00000492582.5:n.1175G>A (CHKB) | ||
| NM_005198.4:c.516G>A , LRG_855t1:c.516G>A (CHKB) | NP_005189.2:p.Ala172= | |
| NR_027928.2:n.734G>A (CHKB-CPT1B) | ||
| NM_005198.5:c.516G>A (CHKB) MANE Select | NP_005189.2:p.Ala172= |