Linked Data
dbSNP Id:
rs1272108227
gnomAD v2:
22-51020441-A-G
gnomAD v3:
22-50582012-A-G
gnomAD v4:
22-50582012-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582012A>G , CM000684.2:g.50582012A>G | GRCh38 |
| NC_000022.10:g.51020441A>G , CM000684.1:g.51020441A>G | GRCh37 |
| NC_000022.9:g.49367307A>G | NCBI36 |
| NG_012643.1:g.1656T>C | |
| NG_029213.1:g.5988T>C , LRG_855:g.5988T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.334-150T>C (CHKB) MANE Select | ENSP00000384400.3:n.334-150T>C | |
| ENST00000406938.2:c.334-150T>C (CHKB) | ENSP00000384400.2:n.334-150T>C | |
| ENST00000463053.1:n.482+17T>C (CHKB) | ||
| ENST00000465842.1:n.173-150T>C (CHKB) | ||
| ENST00000468532.5:n.211-150T>C (CHKB) | ||
| ENST00000476289.5:n.607-150T>C (CHKB) | ||
| ENST00000479003.5:n.809T>C (CHKB) | ||
| ENST00000481673.5:n.634T>C (CHKB) | ||
| ENST00000484266.5:n.576+237T>C (CHKB) | ||
| ENST00000492556.5:n.954T>C (CHKB-CPT1B) | ||
| ENST00000492582.5:n.843T>C (CHKB) | ||
| NM_005198.4:c.334-150T>C , LRG_855t1:c.334-150T>C (CHKB) | NP_005189.2:n.334-150T>C | |
| NR_027928.2:n.552-150T>C (CHKB-CPT1B) | ||
| NM_005198.5:c.334-150T>C (CHKB) MANE Select | NP_005189.2:n.334-150T>C |