Linked Data
ClinVar Variation Id:
1932812
ClinVar RCV Id:
RCV002649523
dbSNP Id:
rs1647925458
gnomAD v4:
1-63593493-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593493T>G , CM000663.2:g.63593493T>G | GRCh38 |
| NC_000001.10:g.64059164T>G , CM000663.1:g.64059164T>G | GRCh37 |
| NC_000001.9:g.63831752T>G | NCBI36 |
| NG_016966.1:g.5218T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.5T>G (PGM1) MANE Select | ENSP00000360125.3:p.Val2Gly | |
| ENST00000650546.1:c.5T>G (PGM1) | ENSP00000497812.1:p.Val2Gly | |
| ENST00000371084.7:c.5T>G (PGM1) | ENSP00000360125.3:p.Val2Gly | |
| ENST00000478138.1:n.197+32A>C (ITGB3BP) | ||
| NM_002633.2:c.5T>G (PGM1) | NP_002624.2:p.Val2Gly | |
| NM_002633.3:c.5T>G (PGM1) MANE Select | NP_002624.2:p.Val2Gly |