Canonical Allele Identifier:
CA1031632593
Gene:
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.65440138C>G , CM000664.2:g.65440138C>G | GRCh38 |
| NC_000002.11:g.65667272C>G , CM000664.1:g.65667272C>G | GRCh37 |
| NC_000002.10:g.65520776C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_940190.1:n.181+3256C>G | ||
| XR_940187.3:n.1439-53G>C |