Canonical Allele Identifier:
CA199922326
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001171 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120099019T>A , CM000671.2:g.120099019T>A | GRCh38 |
| NC_000009.11:g.122861297T>A , CM000671.1:g.122861297T>A | GRCh37 |
| NC_000009.10:g.121901118T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001746921.1:n.482-14705A>T | ||
| XR_001746922.1:n.482-14705A>T |