Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216028914T>A , CM000664.2:g.216028914T>A | GRCh38 |
| NC_000002.11:g.216893637T>A , CM000664.1:g.216893637T>A | GRCh37 |
| NC_000002.10:g.216601882T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420348.1:c.-68+3875A>T (MREG) | ENSP00000404470.1:n.-68+3875A>T | |
| ENST00000424992.5:c.-68+5048A>T (MREG) | ENSP00000413302.1:n.-68+5048A>T | |
| ENST00000439791.5:c.-68+4769A>T (MREG) | ENSP00000411076.1:n.-68+4769A>T | |
| ENST00000442122.5:c.*440+10277A>T (PECR) | ENSP00000395512.1:n.*440+10277A>T | |
| NM_001372189.1:c.-68+5048A>T (MREG) | NP_001359118.1:n.-68+5048A>T | |
| NM_001372190.1:c.-68+4769A>T (MREG) | NP_001359119.1:n.-68+4769A>T |