gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67977951 (EAS)
Genomes Max Group AF
0.67977951 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69393486G>A , CM000665.2:g.69393486G>A | GRCh38 |
| NC_000003.11:g.69442637G>A , CM000665.1:g.69442637G>A | GRCh37 |
| NC_000003.10:g.69525327G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000459638.5:c.-1+39148C>T | ENSP00000417550.1:n.-1+39148C>T | |
| ENST00000497757.1:n.271+39148C>T | ||
| ENST00000497880.5:c.-1+39148C>T | ENSP00000417765.1:n.-1+39148C>T | |
| XM_006713063.2:c.-1+39148C>T | XP_006713126.1:n.-1+39148C>T | |
| XM_017005991.1:c.-1+39148C>T | XP_016861480.1:n.-1+39148C>T | |
| XM_017005993.1:c.-1+39148C>T | XP_016861482.1:n.-1+39148C>T |