gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3497594 (AMR)
Genomes Max Group AF
0.3497594 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78691701A>G , CM000667.2:g.78691701A>G | GRCh38 |
| NC_000005.9:g.77987524A>G , CM000667.1:g.77987524A>G | GRCh37 |
| NC_000005.8:g.78023280A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000514587.1:n.402-59333T>C | ||
| XM_024454322.1:c.-350+26383T>C | XP_024310090.1:n.-350+26383T>C | |
| XM_024454323.1:c.-350+26383T>C | XP_024310091.1:n.-350+26383T>C |