gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16495976 (EAS)
Genomes Max Group AF
0.16495976 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32817498G>A , CM000668.2:g.32817498G>A | GRCh38 |
| NC_000006.11:g.32785275G>A , CM000668.1:g.32785275G>A | GRCh37 |
| NC_000006.10:g.32893253G>A | NCBI36 |
| NG_009793.3:g.26273C>T | |
| NG_012008.1:g.4551C>T | |
| NG_009793.4:g.26273C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648009.1:c.-1-546C>T | ENSP00000496848.1:n.-1-546C>T | |
| ENST00000452392.2:c.1933-546C>T | ENSP00000391806.2:n.1933-546C>T |