Canonical Allele Identifier:
CA118675983
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07034784 (SAS)
Genomes Max Group AF
0.07034784 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.51940492C>T , CM000667.2:g.51940492C>T | GRCh38 |
| NC_000005.9:g.51236326C>T , CM000667.1:g.51236326C>T | GRCh37 |
| NC_000005.8:g.51272083C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948315.1:n.183-2721G>A | ||
| XR_948315.2:n.141-2721G>A |