Canonical Allele Identifier:
CA784280826
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.99547493C>G , CM000665.2:g.99547493C>G | GRCh38 |
| NC_000003.11:g.99266337C>G , CM000665.1:g.99266337C>G | GRCh37 |
| NC_000003.10:g.100749027C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001740463.1:n.96+42114G>C | ||
| XR_001740466.2:n.475G>C | ||
| XR_924268.2:n.475G>C |