Canonical Allele Identifier:
CA15418452
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24958067 (AMR)
Genomes Max Group AF
0.24958067 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.101612841C>A , CM000667.2:g.101612841C>A | GRCh38 |
| NC_000005.9:g.100948545C>A , CM000667.1:g.100948545C>A | GRCh37 |
| NC_000005.8:g.100976444C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948628.1:n.250+18293G>T | ||
| XR_001742829.1:n.1095+18293G>T | ||
| XR_948628.2:n.464+18293G>T |