gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78395553 (AFR)
Genomes Max Group AF
0.78395553 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44642803T>C , CM000681.2:g.44642803T>C | GRCh38 |
| NC_000019.9:g.45146103T>C , CM000681.1:g.45146103T>C | GRCh37 |
| NC_000019.8:g.49837943T>C | NCBI36 |
| NG_008781.2:g.4006T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753953.1:n.530-10184A>G | ||
| XR_001753954.1:n.467-10184A>G |