gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75672843 (AMR)
Genomes Max Group AF
0.75672843 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58221728G>A , CM000682.2:g.58221728G>A | GRCh38 |
| NC_000020.10:g.56796784G>A , CM000682.1:g.56796784G>A | GRCh37 |
| NC_000020.9:g.56230190G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457363.2:c.562-225C>T MANE Select | ENSP00000396747.1:n.562-225C>T | |
| ENST00000457363.1:c.562-225C>T | ENSP00000396747.1:n.562-225C>T | |
| NM_001304369.1:c.562-225C>T | NP_001291298.1:n.562-225C>T | |
| XM_011528572.1:c.124-225C>T | XP_011526874.1:n.124-225C>T | |
| NM_001304369.2:c.562-225C>T MANE Select | NP_001291298.1:n.562-225C>T |