gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16463257 (SAS)
Genomes Max Group AF
0.16463257 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94500021C>T , CM000673.2:g.94500021C>T | GRCh38 |
| NC_000011.9:g.94233187C>T , CM000673.1:g.94233187C>T | GRCh37 |
| NC_000011.8:g.93872835C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011542837.1:c.-105-7115G>A | XP_011541139.1:n.-105-7115G>A | |
| XM_011542837.2:c.-105-7115G>A | XP_011541139.1:n.-105-7115G>A |