gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45448194G>C , CM000677.2:g.45448194G>C | GRCh38 |
| NC_000015.9:g.45740392G>C , CM000677.1:g.45740392G>C | GRCh37 |
| NC_000015.8:g.43527684G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000558435.5:c.184-355G>C (C15orf48) | ENSP00000452967.1:n.184-355G>C | |
| XM_017022774.1:c.166-124G>C (SLC30A4-AS1) | XP_016878263.1:n.166-124G>C |