Canonical Allele Identifier:
CA12756858
Gene:
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23961174G>C , CM000670.2:g.23961174G>C | GRCh38 |
| NC_000008.10:g.23818687G>C , CM000670.1:g.23818687G>C | GRCh37 |
| NC_000008.9:g.23874632G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001745844.1:n.138+42406G>C |