Canonical Allele Identifier:
CA248930205
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2698672 (AMR)
Genomes Max Group AF
0.2698672 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.40167770C>T , CM000675.2:g.40167770C>T | GRCh38 |
| NC_000013.10:g.40741907C>T , CM000675.1:g.40741907C>T | GRCh37 |
| NC_000013.9:g.39639907C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011535337.1:c.9+703G>A | XP_011533639.1:n.9+703G>A | |
| XM_011535338.1:c.54-48245G>A | XP_011533640.1:n.54-48245G>A |