Canonical Allele Identifier:
CA156111471
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01183967 (AFR)
Genomes Max Group AF
0.01183967 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30911505G>C , CM000669.2:g.30911505G>C | GRCh38 |
| NC_000007.13:g.30951120G>C , CM000669.1:g.30951120G>C | GRCh37 |
| NC_000007.12:g.30917645G>C | NCBI36 |
| NG_007475.2:g.63112G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509504.2:c.622-488G>C |