Linked Data
ClinVar Variation Id:
2398822
ClinVar RCV Id:
RCV004231535
dbSNP Id:
rs1882224170
gnomAD v3:
18-62523618-G-A
gnomAD v4:
18-62523618-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62523618G>A , CM000680.2:g.62523618G>A | GRCh38 |
| NC_000018.9:g.60190851G>A , CM000680.1:g.60190851G>A | GRCh37 |
| NC_000018.8:g.58341831G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269499.10:c.194G>A MANE Select | ENSP00000269499.4:p.Arg65Gln | |
| ENST00000269499.9:c.194G>A | ENSP00000269499.4:p.Arg65Gln | |
| NM_017742.5:c.194G>A | NP_060212.4:p.Arg65Gln | |
| NR_126534.1:n.194G>A | ||
| XR_245462.2:n.209G>A | ||
| XR_001753205.1:n.209G>A | ||
| NM_017742.6:c.194G>A MANE Select | NP_060212.4:p.Arg65Gln | |
| NR_126534.2:n.594G>A |