Canonical Allele Identifier:
CA12899745
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70737949 (AFR)
Genomes Max Group AF
0.70737949 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125492484T>C , CM000670.2:g.125492484T>C | GRCh38 |
| NC_000008.10:g.126504726T>C , CM000670.1:g.126504726T>C | GRCh37 |
| NC_000008.9:g.126573908T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_928628.1:n.256+19170T>C |