Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593384A>G , CM000663.2:g.63593384A>G | GRCh38 |
| NC_000001.10:g.64059055A>G , CM000663.1:g.64059055A>G | GRCh37 |
| NC_000001.9:g.63831643A>G | NCBI36 |
| NG_016966.1:g.5109A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.7:c.-105A>G (PGM1) | ENSP00000360125.3:n.-105A>G | |
| ENST00000478138.1:n.197+141T>C (ITGB3BP) | ||
| NM_002633.2:c.-105A>G (PGM1) | NP_002624.2:n.-105A>G |