Linked Data
dbSNP Id:
rs900050010
gnomAD v2:
1-64059123-A-G
gnomAD v3:
1-63593452-A-G
gnomAD v4:
1-63593452-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593452A>G , CM000663.2:g.63593452A>G | GRCh38 |
| NC_000001.10:g.64059123A>G , CM000663.1:g.64059123A>G | GRCh37 |
| NC_000001.9:g.63831711A>G | NCBI36 |
| NG_016966.1:g.5177A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.-37A>G (PGM1) MANE Select | ENSP00000360125.3:n.-37A>G | |
| ENST00000650546.1:c.-37A>G (PGM1) | ENSP00000497812.1:n.-37A>G | |
| ENST00000371084.7:c.-37A>G (PGM1) | ENSP00000360125.3:n.-37A>G | |
| ENST00000478138.1:n.197+73T>C (ITGB3BP) | ||
| NM_002633.2:c.-37A>G (PGM1) | NP_002624.2:n.-37A>G | |
| NM_002633.3:c.-37A>G (PGM1) MANE Select | NP_002624.2:n.-37A>G |