Canonical Allele Identifier:
CA14702828
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36231415 (AFR)
Genomes Max Group AF
0.36231415 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40287019C>G , CM000681.2:g.40287019C>G | GRCh38 |
| NC_000019.9:g.40792926C>G , CM000681.1:g.40792926C>G | GRCh37 |
| NC_000019.8:g.45484766C>G | NCBI36 |
| NG_012038.2:g.3340G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_935967.1:n.169+420C>G |