gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41885572 (AFR)
Genomes Max Group AF
0.41885572 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216201914G>A , CM000664.2:g.216201914G>A | GRCh38 |
| NC_000002.11:g.217066637G>A , CM000664.1:g.217066637G>A | GRCh37 |
| NC_000002.10:g.216774882G>A | NCBI36 |
| NG_029780.1:g.97618G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392132.7:c.2110-2408G>A MANE Select | ENSP00000375977.2:n.2110-2408G>A | |
| ENST00000392132.6:c.2110-2408G>A | ENSP00000375977.2:n.2110-2408G>A | |
| ENST00000392133.7:c.2110-2408G>A | ENSP00000375978.3:n.2110-2408G>A | |
| ENST00000460284.5:n.2652-2408G>A | ||
| NM_021141.3:c.2110-2408G>A | NP_066964.1:n.2110-2408G>A | |
| NM_021141.4:c.2110-2408G>A MANE Select | NP_066964.1:n.2110-2408G>A |