dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005126 (SAS)
Exomes Max Group AF
0.00004493 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404251A>G , CM000666.2:g.73404251A>G | GRCh38 |
| NC_000004.11:g.74269968A>G , CM000666.1:g.74269968A>G | GRCh37 |
| NC_000004.10:g.74488832A>G | NCBI36 |
| NG_009291.1:g.4997A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.8:c.-77A>G | ENSP00000295897.4:n.-77A>G | |
| ENST00000441319.5:c.48-118A>G | ENSP00000392541.1:n.48-118A>G | |
| NM_000477.6:c.-77A>G | NP_000468.1:n.-77A>G |