Canonical Allele Identifier:
CA12983544
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.59004655 (EAS)
Genomes Max Group AF
0.59004655 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.23557229T>G , CM000671.2:g.23557229T>G | GRCh38 |
| NC_000009.11:g.23557227T>G , CM000671.1:g.23557227T>G | GRCh37 |
| NC_000009.10:g.23547227T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_121602.1:n.1847-2612A>C |