gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04495415 (NFE)
Genomes Max Group AF
0.04495415 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.38911809C>T , CM000683.2:g.38911809C>T | GRCh38 |
| NC_000021.8:g.40283733C>T , CM000683.1:g.40283733C>T | GRCh37 |
| NC_000021.7:g.39205603C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120405.1:n.677-9844G>A |