Linked Data
gnomAD v4:
22-50578950-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50578950G>A , CM000684.2:g.50578950G>A | GRCh38 |
| NC_000022.10:g.51017379G>A , CM000684.1:g.51017379G>A | GRCh37 |
| NC_000022.9:g.49364245G>A | NCBI36 |
| NG_012643.1:g.4718C>T | |
| NG_029213.1:g.9050C>T , LRG_855:g.9050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.2:c.*231C>T (CHKB) | ENSP00000384400.2:n.*231C>T | |
| ENST00000452668.1:n.319+86C>T (CHKB-CPT1B) | ||
| ENST00000453634.5:c.328+86C>T (CHKB-CPT1B) | ENSP00000457031.1:n.328+86C>T | |
| ENST00000492556.5:n.2189+86C>T (CHKB-CPT1B) | ||
| NR_027928.2:n.1551+86C>T (CHKB-CPT1B) |