Canonical Allele Identifier:
CA13948076
Gene:
Linked Data
dbSNP Id:
rs10133840
gnomAD v2:
14-95410529-C-G
gnomAD v3:
14-94944192-C-G
gnomAD v4:
14-94944192-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94944192C>G , CM000676.2:g.94944192C>G | GRCh38 |
| NC_000014.8:g.95410529C>G , CM000676.1:g.95410529C>G | GRCh37 |
| NC_000014.7:g.94480282C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_001750935.1:n.500-263G>C |