gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.24150614 (EAS)
Genomes Max Group AF
0.27184677 (EAS)
Exomes Max Group AF
0.23493769 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156242034T>C , CM000663.2:g.156242034T>C | GRCh38 |
| NC_000001.10:g.156211825T>C , CM000663.1:g.156211825T>C | GRCh37 |
| NC_000001.9:g.154478449T>C | NCBI36 |
| NG_047015.1:g.4875T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320139.5:c.369-519T>C (PMF1-BGLAP) | ENSP00000324909.5:n.369-519T>C | |
| ENST00000368272.4:c.-198T>C (BGLAP) | ENSP00000357255.4:n.-198T>C | |
| ENST00000368276.8:c.504-519T>C (PMF1-BGLAP) | ENSP00000357259.4:n.504-519T>C | |
| ENST00000490491.5:c.565-519T>C (PMF1-BGLAP) | ENSP00000475561.1:n.565-519T>C | |
| ENST00000567140.3:c.358-519T>C (PMF1-BGLAP) | ENSP00000458021.2:n.358-519T>C | |
| NM_001199661.1:c.504-519T>C (PMF1-BGLAP) | NP_001186590.1:n.504-519T>C | |
| NM_001199662.1:c.565-519T>C (PMF1-BGLAP) | NP_001186591.1:n.565-519T>C | |
| NM_001199663.1:c.369-519T>C (PMF1-BGLAP) | NP_001186592.1:n.369-519T>C | |
| NM_001199664.1:c.358-519T>C (PMF1-BGLAP) | NP_001186593.1:n.358-519T>C | |
| NM_199173.5:c.-198T>C (BGLAP) | NP_954642.1:n.-198T>C |