gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.21438598 (NFE)
Genomes Max Group AF
0.21438598 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32667175G>T , CM000668.2:g.32667175G>T | GRCh38 |
| NC_000006.11:g.32634952G>T , CM000668.1:g.32634952G>T | GRCh37 |
| NC_000006.10:g.32742930G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399084.5:c.-63-505C>A | ENSP00000382034.1:n.-63-505C>A |