Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216033874T>C , CM000664.2:g.216033874T>C | GRCh38 |
| NC_000002.11:g.216898597T>C , CM000664.1:g.216898597T>C | GRCh37 |
| NC_000002.10:g.216606842T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424992.5:c.-68+88A>G (MREG) | ENSP00000413302.1:n.-68+88A>G | |
| ENST00000442122.5:c.*440+5317A>G (PECR) | ENSP00000395512.1:n.*440+5317A>G | |
| XR_001738847.2:n.1056-1022A>G (PECR) | ||
| NM_001372189.1:c.-68+88A>G (MREG) | NP_001359118.1:n.-68+88A>G |