Canonical Allele Identifier:
CA16295906
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21954717 (AFR)
Genomes Max Group AF
0.21954717 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30897563T>C , CM000669.2:g.30897563T>C | GRCh38 |
| NC_000007.13:g.30937178T>C , CM000669.1:g.30937178T>C | GRCh37 |
| NC_000007.12:g.30903703T>C | NCBI36 |
| NG_007475.2:g.49170T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509504.2:c.622-14430T>C |