Canonical Allele Identifier:
CA205538142
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76977036 (NFE)
Genomes Max Group AF
0.76977036 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30230903C>T , CM000672.2:g.30230903C>T | GRCh38 |
| NC_000010.10:g.30519832C>T , CM000672.1:g.30519832C>T | GRCh37 |
| NC_000010.9:g.30559838C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120653.1:n.269-14C>T |