Canonical Allele Identifier:
CA561279894
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000489 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96389909C>A , CM000667.2:g.96389909C>A | GRCh38 |
| NC_000005.9:g.95725613C>A , CM000667.1:g.95725613C>A | GRCh37 |
| NC_000005.8:g.95751369C>A | NCBI36 |
| NG_021161.1:g.48373G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_130776.1:n.354+10257C>A |