gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66733809 (AFR)
Genomes Max Group AF
0.66733809 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13823644T>G , CM000686.2:g.13823644T>G | GRCh38 |
| NC_000024.9:g.15935524T>G , CM000686.1:g.15935524T>G | GRCh37 |
| NC_000024.8:g.14444918T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652544.1:n.685-34873T>G | ||
| ENST00000430079.5:n.478-30800T>G | ||
| ENST00000460561.1:n.260+32678T>G | ||
| ENST00000472227.5:n.398+32678T>G |