Canonical Allele Identifier:
CA13632872
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83578604 (EAS)
Genomes Max Group AF
0.83578604 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111766623A>G , CM000674.2:g.111766623A>G | GRCh38 |
| NC_000012.11:g.112204427A>G , CM000674.1:g.112204427A>G | GRCh37 |
| NC_000012.10:g.110688810A>G | NCBI36 |
| NG_012250.1:g.5082A>G | |
| NG_012250.2:g.4737A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546840.3:c.104+10878A>G | ||
| ENST00000546840.2:c.99+10878A>G | ENSP00000450353.3:n.99+10878A>G |