Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.70888665G>T , CM000672.2:g.70888665G>T | GRCh38 |
| NC_000010.10:g.72648422G>T , CM000672.1:g.72648422G>T | GRCh37 |
| NC_000010.9:g.72318428G>T | NCBI36 |
| NG_008646.1:g.5120C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000281.3:c.-132C>A (PCBD1) | NP_000272.1:n.-132C>A |
| NM_001323004.1:c.-132C>A (PCBD1) | NP_001309933.1:n.-132C>A |
| ENST00000299299.3:c.-132C>A (PCBD1) | ENSP00000299299.3:n.-132C>A |
| ENST00000697988.1:c.571-5094G>T (SGPL1) | ENSP00000513492.1:n.571-5094G>T |