Canonical Allele Identifier:
CA191701699
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001977 (NFE)
Genomes Max Group AF
0.00001977 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.25551370C>T , CM000671.2:g.25551370C>T | GRCh38 |
| NC_000009.11:g.25551368C>T , CM000671.1:g.25551368C>T | GRCh37 |
| NC_000009.10:g.25541368C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929525.1:n.50-798G>A | ||
| XR_929525.2:n.674-798G>A |