gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05208576 (AFR)
Genomes Max Group AF
0.05208576 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.53555422C>T , CM000664.2:g.53555422C>T | GRCh38 |
| NC_000002.11:g.53782559C>T , CM000664.1:g.53782559C>T | GRCh37 |
| NC_000002.10:g.53636063C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406053.5:c.1436-21538G>A |