Canonical Allele Identifier:
CA12275372
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20946864 (EAS)
Genomes Max Group AF
0.20946864 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.93730886A>G , CM000668.2:g.93730886A>G | GRCh38 |
| NC_000006.11:g.94440604A>G , CM000668.1:g.94440604A>G | GRCh37 |
| NC_000006.10:g.94497325A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_015362.1:n.1869-5735A>G | ||
| NR_015362.2:n.1950-5735A>G | ||
| NR_152794.1:n.412-5735A>G | ||
| NR_152795.1:n.686-5735A>G |