gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004283 (AMR)
Genomes Max Group AF
0.0000226 (AMR)
Exomes Max Group AF
0.00002985 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70884006C>A , CM000672.2:g.70884006C>A | GRCh38 |
| NC_000010.10:g.72643763C>A , CM000672.1:g.72643763C>A | GRCh37 |
| NC_000010.9:g.72313769C>A | NCBI36 |
| NG_008646.1:g.9779G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697988.1:c.571-9753C>A (SGPL1) | ENSP00000513492.1:n.571-9753C>A | |
| ENST00000299299.4:c.259G>T (PCBD1) MANE Select | ENSP00000299299.3:p.Glu87Ter | |
| ENST00000299299.3:c.259G>T (PCBD1) | ENSP00000299299.3:p.Glu87Ter | |
| ENST00000493228.1:n.658G>T (PCBD1) | ||
| ENST00000493961.5:n.183+1146G>T (PCBD1) | ||
| NM_000281.3:c.259G>T (PCBD1) | NP_000272.1:p.Glu87Ter | |
| NM_001289797.1:c.112G>T (PCBD1) | NP_001276726.1:p.Glu38Ter | |
| XM_005269877.1:c.216+1146G>T (PCBD1) | XP_005269934.1:n.216+1146G>T | |
| NM_001323004.1:c.216+1146G>T (PCBD1) | NP_001309933.1:n.216+1146G>T | |
| NM_000281.4:c.259G>T (PCBD1) MANE Select | NP_000272.1:p.Glu87Ter | |
| NM_001289797.2:c.112G>T (PCBD1) | NP_001276726.1:p.Glu38Ter | |
| NM_001323004.2:c.216+1146G>T (PCBD1) | NP_001309933.1:n.216+1146G>T |