Canonical Allele Identifier:
CA14362922
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09733541 (NFE)
Genomes Max Group AF
0.09733541 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16144637G>A , CM000678.2:g.16144637G>A | GRCh38 |
| NC_000016.9:g.16238494G>A , CM000678.1:g.16238494G>A | GRCh37 |
| NC_000016.8:g.16145995G>A | NCBI36 |
| NG_028268.1:g.200061G>A | |
| NG_028268.2:g.200061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933134.1:n.538+347G>A |