gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46040757 (AFR)
Genomes Max Group AF
0.46040757 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109566120G>A , CM000663.2:g.109566120G>A | GRCh38 |
| NC_000001.10:g.110108742G>A , CM000663.1:g.110108742G>A | GRCh37 |
| NC_000001.9:g.109910265G>A | NCBI36 |
| NG_032795.1:g.22557G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369851.7:c.119-7617G>A MANE Select | ENSP00000358867.4:n.119-7617G>A | |
| ENST00000369851.5:c.119-7617G>A | ENSP00000358867.4:n.119-7617G>A | |
| NM_006496.3:c.119-7617G>A | NP_006487.1:n.119-7617G>A | |
| NM_006496.4:c.119-7617G>A MANE Select | NP_006487.1:n.119-7617G>A |