Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593497G>C , CM000663.2:g.63593497G>C | GRCh38 |
| NC_000001.10:g.64059168G>C , CM000663.1:g.64059168G>C | GRCh37 |
| NC_000001.9:g.63831756G>C | NCBI36 |
| NG_016966.1:g.5222G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.9G>C (PGM1) MANE Select | ENSP00000360125.3:p.Lys3Asn | |
| ENST00000650546.1:c.9G>C (PGM1) | ENSP00000497812.1:p.Lys3Asn | |
| ENST00000371084.7:c.9G>C (PGM1) | ENSP00000360125.3:p.Lys3Asn | |
| ENST00000478138.1:n.197+28C>G (ITGB3BP) | ||
| NM_002633.2:c.9G>C (PGM1) | NP_002624.2:p.Lys3Asn | |
| NM_002633.3:c.9G>C (PGM1) MANE Select | NP_002624.2:p.Lys3Asn |