Linked Data
ClinVar Variation Id:
1986183
ClinVar RCV Id:
RCV002785990
dbSNP Id:
rs2070711957
gnomAD v4:
22-50582351-G-T
MyVariant Identifiers:
chr22:g.51020780G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50582351G>T , CM000684.2:g.50582351G>T | GRCh38 |
| NC_000022.10:g.51020780G>T , CM000684.1:g.51020780G>T | GRCh37 |
| NC_000022.9:g.49367646G>T | NCBI36 |
| NG_012643.1:g.1317C>A | |
| NG_029213.1:g.5649C>A , LRG_855:g.5649C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406938.3:c.231C>A (CHKB) MANE Select | ENSP00000384400.3:p.Gly77= | |
| ENST00000406938.2:c.231C>A (CHKB) | ENSP00000384400.2:p.Gly77= | |
| ENST00000463053.1:n.313C>A (CHKB) | ||
| ENST00000465842.1:n.70C>A (CHKB) | ||
| ENST00000468532.5:n.108C>A (CHKB) | ||
| ENST00000476289.5:n.504C>A (CHKB) | ||
| ENST00000479003.5:n.470C>A (CHKB) | ||
| ENST00000481673.5:n.295C>A (CHKB) | ||
| ENST00000484266.5:n.474C>A (CHKB) | ||
| ENST00000492556.5:n.615C>A (CHKB-CPT1B) | ||
| ENST00000492582.5:n.504C>A (CHKB) | ||
| NM_005198.4:c.231C>A , LRG_855t1:c.231C>A (CHKB) | NP_005189.2:p.Gly77= | |
| NR_027928.2:n.449C>A (CHKB-CPT1B) | ||
| NM_005198.5:c.231C>A (CHKB) MANE Select | NP_005189.2:p.Gly77= |