gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46983486 (AMR)
Genomes Max Group AF
0.46983486 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28507775T>C , CM000678.2:g.28507775T>C | GRCh38 |
| NC_000016.9:g.28519096T>C , CM000678.1:g.28519096T>C | GRCh37 |
| NC_000016.8:g.28426597T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568075.1:c.-362-3725A>G | ENSP00000455990.1:n.-362-3725A>G | |
| XM_011545780.1:c.38-3725A>G | XP_011544082.1:n.38-3725A>G | |
| XM_011545780.2:c.38-3725A>G | XP_011544082.1:n.38-3725A>G |