Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50583050G>A , CM000684.2:g.50583050G>A | GRCh38 |
| NC_000022.10:g.51021479G>A , CM000684.1:g.51021479G>A | GRCh37 |
| NC_000022.9:g.49368345G>A | NCBI36 |
| NG_012643.1:g.618C>T | |
| NG_029213.1:g.4950C>T , LRG_855:g.4950C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_021492.2:n.25G>A (CHKB-DT) | |
| NR_110536.1:n.25G>A (CHKB-DT) | |
| ENST00000463053.1:n.307-693C>T (CHKB) |