Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216033935G>C , CM000664.2:g.216033935G>C | GRCh38 |
| NC_000002.11:g.216898658G>C , CM000664.1:g.216898658G>C | GRCh37 |
| NC_000002.10:g.216606903G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001372189.1:c.-68+27C>G (MREG) | NP_001359118.1:n.-68+27C>G |
| ENST00000424992.5:c.-68+27C>G (MREG) | ENSP00000413302.1:n.-68+27C>G |
| ENST00000442122.5:c.*440+5256C>G (PECR) | ENSP00000395512.1:n.*440+5256C>G |
| XR_001738847.2:n.1056-1083C>G (PECR) |