Canonical Allele Identifier:
CA43488253
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97115534 (EAS)
Genomes Max Group AF
0.97115534 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21072103G>A , CM000664.2:g.21072103G>A | GRCh38 |
| NC_000002.11:g.21294975G>A , CM000664.1:g.21294975G>A | GRCh37 |
| NC_000002.10:g.21148480G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939796.1:n.192+972G>A | ||
| XR_939797.1:n.192+972G>A |