Linked Data
dbSNP Id:
rs376194232
ExAC:
22:51019900 A / T
gnomAD v2:
22-51019900-A-T
gnomAD v4:
22-50581471-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50581471A>T , CM000684.2:g.50581471A>T | GRCh38 |
| NC_000022.10:g.51019900A>T , CM000684.1:g.51019900A>T | GRCh37 |
| NC_000022.9:g.49366766A>T | NCBI36 |
| NG_012643.1:g.2197T>A | |
| NG_029213.1:g.6529T>A , LRG_855:g.6529T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.530T>A (CHKB) MANE Select | ENSP00000384400.3:p.Met177Lys | |
| ENST00000406938.2:c.530T>A (CHKB) | ENSP00000384400.2:p.Met177Lys | |
| ENST00000463053.1:n.679T>A (CHKB) | ||
| ENST00000468532.5:n.407T>A (CHKB) | ||
| ENST00000476289.5:n.803T>A (CHKB) | ||
| ENST00000479003.5:n.1155T>A (CHKB) | ||
| ENST00000481673.5:n.980T>A (CHKB) | ||
| ENST00000484266.5:n.576+778T>A (CHKB) | ||
| ENST00000492556.5:n.1300T>A (CHKB-CPT1B) | ||
| ENST00000492582.5:n.1189T>A (CHKB) | ||
| NM_005198.4:c.530T>A , LRG_855t1:c.530T>A (CHKB) | NP_005189.2:p.Met177Lys | |
| NR_027928.2:n.748T>A (CHKB-CPT1B) | ||
| NM_005198.5:c.530T>A (CHKB) MANE Select | NP_005189.2:p.Met177Lys |