gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89507857 (EAS)
Genomes Max Group AF
0.89507857 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.96412478A>G , CM000668.2:g.96412478A>G | GRCh38 |
| NC_000006.11:g.96860354A>G , CM000668.1:g.96860354A>G | GRCh37 |
| NC_000006.10:g.96967075A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002956363.1:n.9203-42998T>C |