Canonical Allele Identifier:
CA14266127
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6826093 (SAS)
Genomes Max Group AF
0.6826093 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.55655175C>G , CM000678.2:g.55655175C>G | GRCh38 |
| NC_000016.9:g.55689087C>G , CM000678.1:g.55689087C>G | GRCh37 |
| NC_000016.8:g.54246588C>G | NCBI36 |
| NG_016969.1:g.4546C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_933603.1:n.54+424G>C |