gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28331398 (SAS)
Genomes Max Group AF
0.28678488 (SAS)
Exomes Max Group AF
0.22248062 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63039169G>A , CM000670.2:g.63039169G>A | GRCh38 |
| NC_000008.10:g.63951728G>A , CM000670.1:g.63951728G>A | GRCh37 |
| NC_000008.9:g.64114282G>A | NCBI36 |
| NG_028126.1:g.4883C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000677327.1:n.239C>T | ||
| ENST00000679326.1:c.-401C>T | ENSP00000504262.1:n.-401C>T | |
| ENST00000260118.6:c.-401C>T | ENSP00000260118.6:n.-401C>T | |
| XM_011517623.1:c.-401C>T | XP_011515925.1:n.-401C>T |