gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.57096268 (AMR)
Genomes Max Group AF
0.57096268 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.20368720C>A , CM000674.2:g.20368720C>A | GRCh38 |
| NC_000012.11:g.20521654C>A , CM000674.1:g.20521654C>A | GRCh37 |
| NC_000012.10:g.20412921C>A | NCBI36 |
| NG_030033.1:g.4476C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359062.4:c.-565C>A MANE Select | ENSP00000351957.3:n.-565C>A | |
| XM_006719086.2:c.-565C>A | XP_006719149.2:n.-565C>A | |
| NM_000921.5:c.-565C>A MANE Select | NP_000912.3:n.-565C>A | |
| NM_001378407.1:c.-565C>A | NP_001365336.1:n.-565C>A | |
| NM_001378408.1:c.-1593C>A | NP_001365337.1:n.-1593C>A |