gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56435558 (NFE)
Genomes Max Group AF
0.56435558 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63459629A>C , CM000668.2:g.63459629A>C | GRCh38 |
| NC_000006.11:g.64169534A>C , CM000668.1:g.64169534A>C | GRCh37 |
| NC_000006.10:g.64227493A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011535890.1:c.-840-15871T>G | XP_011534192.1:n.-840-15871T>G | |
| XM_017010929.2:c.-825-15871T>G | XP_016866418.1:n.-825-15871T>G |