gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08381106 (AFR)
Genomes Max Group AF
0.08390044 (AFR)
Exomes Max Group AF
0.01110501 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19484172T>A , CM000686.2:g.19484172T>A | GRCh38 |
| NC_000024.9:g.21646058T>A , CM000686.1:g.21646058T>A | GRCh37 |
| NC_000024.8:g.20105446T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.112-3878A>T | ||
| ENST00000400605.5:n.106-3878A>T | ||
| ENST00000441139.5:n.123-3878A>T | ||
| ENST00000513194.1:n.713A>T | ||
| NR_002923.2:n.123-3878A>T | ||
| NR_033732.1:n.123-3878A>T |