Linked Data
dbSNP Id:
rs1007164791
gnomAD v2:
1-64059109-C-T
gnomAD v3:
1-63593438-C-T
gnomAD v4:
1-63593438-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593438C>T , CM000663.2:g.63593438C>T | GRCh38 |
| NC_000001.10:g.64059109C>T , CM000663.1:g.64059109C>T | GRCh37 |
| NC_000001.9:g.63831697C>T | NCBI36 |
| NG_016966.1:g.5163C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.-51C>T (PGM1) MANE Select | ENSP00000360125.3:n.-51C>T | |
| ENST00000650546.1:c.-51C>T (PGM1) | ENSP00000497812.1:n.-51C>T | |
| ENST00000371084.7:c.-51C>T (PGM1) | ENSP00000360125.3:n.-51C>T | |
| ENST00000478138.1:n.197+87G>A (ITGB3BP) | ||
| NM_002633.2:c.-51C>T (PGM1) | NP_002624.2:n.-51C>T | |
| NM_002633.3:c.-51C>T (PGM1) MANE Select | NP_002624.2:n.-51C>T |