gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72348475 (AFR)
Genomes Max Group AF
0.72348475 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.164656581T>C , CM000664.2:g.164656581T>C | GRCh38 |
| NC_000002.11:g.165513091T>C , CM000664.1:g.165513091T>C | GRCh37 |
| NC_000002.10:g.165221337T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000495084.1:n.182-2667A>G | ||
| XR_241342.2:n.2051-2667A>G | ||
| XR_923549.1:n.1604-2667A>G |