Canonical Allele Identifier:
CA100001684
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80248758G>C , CM000666.2:g.80248758G>C | GRCh38 |
| NC_000004.11:g.81169912G>C , CM000666.1:g.81169912G>C | GRCh37 |
| NC_000004.10:g.81388936G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_938930.1:n.187-6607G>C |