Canonical Allele Identifier:
CA15214016
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.74683522 (AFR)
Genomes Max Group AF
0.74683522 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227644742C>T , CM000664.2:g.227644742C>T | GRCh38 |
| NC_000002.11:g.228509458C>T , CM000664.1:g.228509458C>T | GRCh37 |
| NC_000002.10:g.228217702C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509872.1:n.805-2466G>A |