gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61593585 (NFE)
Genomes Max Group AF
0.61593585 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.38919816T>C , CM000683.2:g.38919816T>C | GRCh38 |
| NC_000021.8:g.40291740T>C , CM000683.1:g.40291740T>C | GRCh37 |
| NC_000021.7:g.39213610T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_120405.1:n.676+3822A>G |