Canonical Allele Identifier:
CA1085317343
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1573378G>C , CM000668.2:g.1573378G>C | GRCh38 |
| NC_000006.11:g.1573613G>C , CM000668.1:g.1573613G>C | GRCh37 |
| NC_000006.10:g.1518612G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001743924.1:n.86+6841C>G |