Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593363C>G , CM000663.2:g.63593363C>G | GRCh38 |
| NC_000001.10:g.64059034C>G , CM000663.1:g.64059034C>G | GRCh37 |
| NC_000001.9:g.63831622C>G | NCBI36 |
| NG_016966.1:g.5088C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.7:c.-126C>G (PGM1) | ENSP00000360125.3:n.-126C>G | |
| ENST00000478138.1:n.197+162G>C (ITGB3BP) | ||
| NM_002633.2:c.-126C>G (PGM1) | NP_002624.2:n.-126C>G |