gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14760473 (MID)
Genomes Max Group AF
0.1305862 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63362813G>A , CM000682.2:g.63362813G>A | GRCh38 |
| NC_000020.10:g.61994165G>A , CM000682.1:g.61994165G>A | GRCh37 |
| NC_000020.9:g.61464609G>A | NCBI36 |
| NG_011931.1:g.3531C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675470.1:c.-964-295C>T | ENSP00000502096.1:n.-964-295C>T | |
| ENST00000463705.5:n.1031+11068C>T | ||
| NR_110634.1:n.306+872G>A | ||
| XM_017027625.2:c.-470-3114C>T | XP_016883114.1:n.-470-3114C>T |