gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57720206 (SAS)
Genomes Max Group AF
0.57720206 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.114750747T>C , CM000673.2:g.114750747T>C | GRCh38 |
| NC_000011.9:g.114621469T>C , CM000673.1:g.114621469T>C | GRCh37 |
| NC_000011.8:g.114126679T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017017211.1:c.1144+44751T>C | XP_016872700.1:n.1144+44751T>C | |
| XM_017017212.1:c.1144+44751T>C | XP_016872701.1:n.1144+44751T>C | |
| XR_001747769.1:n.1295+10991T>C |