gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15826383 (AMR)
Genomes Max Group AF
0.15826383 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.89725761A>G , CM000667.2:g.89725761A>G | GRCh38 |
| NC_000005.9:g.89021578A>G , CM000667.1:g.89021578A>G | GRCh37 |
| NC_000005.8:g.89057334A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948556.1:n.160-43494A>G | ||
| XR_948557.1:n.70+39693A>G | ||
| XR_948556.2:n.161-43494A>G | ||
| XR_948557.2:n.70+39693A>G |