gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26161268 (NFE)
Genomes Max Group AF
0.26161268 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32689612C>G , CM000667.2:g.32689612C>G | GRCh38 |
| NC_000005.9:g.32689718C>G , CM000667.1:g.32689718C>G | GRCh37 |
| NC_000005.8:g.32725475C>G | NCBI36 |
| NG_028162.2:g.5537C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509104.5:c.100+426C>G | ENSP00000425325.1:n.100+426C>G | |
| XM_011514047.1:c.100+426C>G | XP_011512349.1:n.100+426C>G | |
| XM_011514047.2:c.100+426C>G | XP_011512349.1:n.100+426C>G |