Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.139122751T>C , CM000665.2:g.139122751T>C | GRCh38 |
| NC_000003.11:g.138841593T>C , CM000665.1:g.138841593T>C | GRCh37 |
| NC_000003.10:g.140324283T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_026783.3:n.2332-1230T>C (BPESC1) | |
| ENST00000495075.5:c.-142-57539T>C (MRPS22) | ENSP00000418008.1:n.-142-57539T>C |
| ENST00000495225.1:c.-206+12176T>C (MRPS22) | ENSP00000417104.1:n.-206+12176T>C |