gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00023063 (NFE)
Genomes Max Group AF
0.0001587 (NFE)
Exomes Max Group AF
0.00023049 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70883973G>A , CM000672.2:g.70883973G>A | GRCh38 |
| NC_000010.10:g.72643730G>A , CM000672.1:g.72643730G>A | GRCh37 |
| NC_000010.9:g.72313736G>A | NCBI36 |
| NG_008646.1:g.9812C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697988.1:c.571-9786G>A (SGPL1) | ENSP00000513492.1:n.571-9786G>A | |
| ENST00000299299.4:c.292C>T (PCBD1) MANE Select | ENSP00000299299.3:p.Gln98Ter | |
| ENST00000299299.3:c.292C>T (PCBD1) | ENSP00000299299.3:p.Gln98Ter | |
| ENST00000493228.1:n.691C>T (PCBD1) | ||
| ENST00000493961.5:n.183+1179C>T (PCBD1) | ||
| NM_000281.3:c.292C>T (PCBD1) | NP_000272.1:p.Gln98Ter | |
| NM_001289797.1:c.145C>T (PCBD1) | NP_001276726.1:p.Gln49Ter | |
| XM_005269877.1:c.216+1179C>T (PCBD1) | XP_005269934.1:n.216+1179C>T | |
| NM_001323004.1:c.216+1179C>T (PCBD1) | NP_001309933.1:n.216+1179C>T | |
| NM_000281.4:c.292C>T (PCBD1) MANE Select | NP_000272.1:p.Gln98Ter | |
| NM_001289797.2:c.145C>T (PCBD1) | NP_001276726.1:p.Gln49Ter | |
| NM_001323004.2:c.216+1179C>T (PCBD1) | NP_001309933.1:n.216+1179C>T |