Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593526A>C , CM000663.2:g.63593526A>C | GRCh38 |
| NC_000001.10:g.64059197A>C , CM000663.1:g.64059197A>C | GRCh37 |
| NC_000001.9:g.63831785A>C | NCBI36 |
| NG_016966.1:g.5251A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002633.3:c.38A>C (PGM1) MANE Select | NP_002624.2:p.Gln13Pro |
| ENST00000371084.8:c.38A>C (PGM1) MANE Select | ENSP00000360125.3:p.Gln13Pro |
| NM_002633.2:c.38A>C (PGM1) | NP_002624.2:p.Gln13Pro |
| ENST00000371084.7:c.38A>C (PGM1) | ENSP00000360125.3:p.Gln13Pro |
| ENST00000478138.1:n.196T>G (ITGB3BP) | |
| ENST00000650546.1:c.38A>C (PGM1) | ENSP00000497812.1:p.Gln13Pro |