gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64558116 (AFR)
Genomes Max Group AF
0.64558116 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19929380C>T , CM000670.2:g.19929380C>T | GRCh38 |
| NC_000008.10:g.19786891C>T , CM000670.1:g.19786891C>T | GRCh37 |
| NC_000008.9:g.19831171C>T | NCBI36 |
| NG_008855.2:g.32664C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520959.5:c.-140-18800C>T | ENSP00000428496.1:n.-140-18800C>T |