gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00665755 (AFR)
Genomes Max Group AF
0.00666066 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19484789T>A , CM000686.2:g.19484789T>A | GRCh38 |
| NC_000024.9:g.21646675T>A , CM000686.1:g.21646675T>A | GRCh37 |
| NC_000024.8:g.20106063T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650676.1:n.112-4495A>T | ||
| ENST00000400605.5:n.106-4495A>T | ||
| ENST00000441139.5:n.123-4495A>T | ||
| ENST00000513194.1:n.96A>T | ||
| NR_002923.2:n.123-4495A>T | ||
| NR_033732.1:n.123-4495A>T |