gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43340969 (SAS)
Genomes Max Group AF
0.43340969 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79133771A>C , CM000667.2:g.79133771A>C | GRCh38 |
| NC_000005.9:g.78429594A>C , CM000667.1:g.78429594A>C | GRCh37 |
| NC_000005.8:g.78465350A>C | NCBI36 |
| NG_029156.1:g.26991A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518707.1:n.129-12419T>G | ||
| ENST00000520388.5:n.229-12419T>G |