Canonical Allele Identifier:
CA199922327
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38446106 (EAS)
Genomes Max Group AF
0.38446106 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120099019T>C , CM000671.2:g.120099019T>C | GRCh38 |
| NC_000009.11:g.122861297T>C , CM000671.1:g.122861297T>C | GRCh37 |
| NC_000009.10:g.121901118T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001746921.1:n.482-14705A>G | ||
| XR_001746922.1:n.482-14705A>G |