Canonical Allele Identifier:
CA1050130651
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81952561G>C , CM000665.2:g.81952561G>C | GRCh38 |
| NC_000003.11:g.82001712G>C , CM000665.1:g.82001712G>C | GRCh37 |
| NC_000003.10:g.82084402G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940999.1:n.463-559G>C | ||
| XR_940999.2:n.463-559G>C |