Canonical Allele Identifier:
CA13047143
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19023206 (MID)
Genomes Max Group AF
0.18577295 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.25551359C>T , CM000671.2:g.25551359C>T | GRCh38 |
| NC_000009.11:g.25551357C>T , CM000671.1:g.25551357C>T | GRCh37 |
| NC_000009.10:g.25541357C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929525.1:n.50-787G>A | ||
| XR_929525.2:n.674-787G>A |