Canonical Allele Identifier:
CA43588625
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58071846 (MID)
Genomes Max Group AF
0.55644985 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.17844006C>G , CM000664.2:g.17844006C>G | GRCh38 |
| NC_000002.11:g.18025273C>G , CM000664.1:g.18025273C>G | GRCh37 |
| NC_000002.10:g.17888754C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939764.2:n.447+3688G>C |