gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89131932 (EAS)
Genomes Max Group AF
0.89131932 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12447383G>C , CM000665.2:g.12447383G>C | GRCh38 |
| NC_000003.11:g.12488882G>C , CM000665.1:g.12488882G>C | GRCh37 |
| NC_000003.10:g.12463882G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011533842.1:c.1271-23438G>C | XP_011532144.1:n.1271-23438G>C | |
| XM_011533842.2:c.1271-23438G>C | XP_011532144.1:n.1271-23438G>C |