gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44165174 (NFE)
Genomes Max Group AF
0.44165174 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45192480T>C , CM000681.2:g.45192480T>C | GRCh38 |
| NC_000019.9:g.45695738T>C , CM000681.1:g.45695738T>C | GRCh37 |
| NC_000019.8:g.50387578T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000591569.1:n.180+4740T>C | ||
| ENST00000587566.5:c.-276-66509T>C (MARK4) | ENSP00000465414.1:n.-276-66509T>C | |
| ENST00000593083.1:c.386+4740T>C | ENSP00000466282.1:n.386+4740T>C | |
| XR_935826.1:n.1415+4740T>C (BLOC1S3) | ||
| XR_935827.1:n.1415+4740T>C (BLOC1S3) | ||
| XR_935828.1:n.1415+4740T>C (BLOC1S3) | ||
| XR_935829.1:n.1387+4740T>C (BLOC1S3) | ||
| XR_001753683.1:n.1415+4740T>C (BLOC1S3) |