gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93920556 (EAS)
Genomes Max Group AF
0.93920556 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168917561C>A , CM000664.2:g.168917561C>A | GRCh38 |
| NC_000002.11:g.169774071C>A , CM000664.1:g.169774071C>A | GRCh37 |
| NC_000002.10:g.169482317C>A | NCBI36 |
| NG_007374.2:g.118836G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648875.1:c.227-1879G>T | ||
| XM_017005165.1:c.3868-1879G>T | XP_016860654.1:n.3868-1879G>T |