gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21339736 (AFR)
Genomes Max Group AF
0.21339736 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67894139G>A , CM000678.2:g.67894139G>A | GRCh38 |
| NC_000016.9:g.67928042G>A , CM000678.1:g.67928042G>A | GRCh37 |
| NC_000016.8:g.66485543G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291041.6:c.-71+768G>A MANE Select | ENSP00000291041.4:n.-71+768G>A | |
| ENST00000291041.5:c.-71+768G>A | ENSP00000291041.4:n.-71+768G>A | |
| ENST00000570631.5:c.-71+768G>A | ENSP00000482880.1:n.-71+768G>A | |
| ENST00000575198.1:n.71+768G>A | ||
| NM_006742.2:c.-71+768G>A | NP_006733.1:n.-71+768G>A | |
| NM_006742.3:c.-71+768G>A MANE Select | NP_006733.1:n.-71+768G>A |