Linked Data
ClinVar Variation Id:
39377
ClinVar RCV Id:
RCV000734611
dbSNP Id:
rs1080985
gnomAD v3:
22-42132375-G-C
gnomAD v4:
22-42132375-G-C
MyVariant Identifiers:
chr22:g.42132375G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42132375G>C , CM000684.2:g.42132375G>C | GRCh38 |
| NG_008376.3:g.2617C>G | |
| NG_008376.4:g.3436C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011529967.1:c.-1045-539C>G | XP_011528269.1:n.-1045-539C>G |