gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41270865 (AFR)
Genomes Max Group AF
0.41270865 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45205630T>C , CM000681.2:g.45205630T>C | GRCh38 |
| NC_000019.9:g.45708888T>C , CM000681.1:g.45708888T>C | GRCh37 |
| NC_000019.8:g.50400728T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591569.1:n.282+3123T>C | ||
| ENST00000587566.5:c.-276-53359T>C (MARK4) | ENSP00000465414.1:n.-276-53359T>C | |
| XR_935826.1:n.1517+3123T>C (BLOC1S3) | ||
| XR_935827.1:n.1517+3123T>C (BLOC1S3) | ||
| XR_935829.1:n.1489+3123T>C (BLOC1S3) |