gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000631 (SAS)
Exomes Max Group AF
0.00005485 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89177755C>T , CM000673.2:g.89177755C>T | GRCh38 |
| NC_000011.9:g.88910923C>T , CM000673.1:g.88910923C>T | GRCh37 |
| NC_000011.8:g.88550571C>T | NCBI36 |
| NG_008748.1:g.4884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.5:c.-199C>T | ENSP00000263321.4:n.-199C>T | |
| XM_011542970.2:c.-199C>T | XP_011541272.1:n.-199C>T | |
| XR_001748321.1:n.2718-64222G>A | ||
| XR_001748322.1:n.2733-64222G>A |