Linked Data
ClinVar Variation Id:
444116
ClinVar RCV Id:
RCV000626352
dbSNP Id:
rs11698812
gnomAD v2:
20-43948221-A-C
gnomAD v3:
20-45319581-A-C
gnomAD v4:
20-45319581-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45319581A>C , CM000682.2:g.45319581A>C | GRCh38 |
| NC_000020.10:g.43948221A>C , CM000682.1:g.43948221A>C | GRCh37 |
| NC_000020.9:g.43381635A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_936496.1:n.4187A>C | ||
| XR_936497.1:n.3845A>C | ||
| XR_936496.2:n.4175A>C | ||
| XR_936497.2:n.3833A>C |