gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26857404 (AFR)
Genomes Max Group AF
0.26857404 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.109018801C>T , CM000664.2:g.109018801C>T | GRCh38 |
| NC_000002.11:g.109635257C>T , CM000664.1:g.109635257C>T | GRCh37 |
| NC_000002.10:g.109001689C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017004623.2:c.8370+245755C>T | XP_016860112.1:n.8370+245755C>T |