Linked Data
ClinVar Variation Id:
133287
ClinVar RCV Id:
RCV000119800
dbSNP Id:
rs587777402
PubMed:
PMID:24499211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593600A>T , CM000663.2:g.63593600A>T | GRCh38 |
| NC_000001.10:g.64059271A>T , CM000663.1:g.64059271A>T | GRCh37 |
| NC_000001.9:g.63831859A>T | NCBI36 |
| NG_016966.1:g.5325A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.112A>T (PGM1) MANE Select | ENSP00000360125.3:p.Asn38Tyr | |
| ENST00000650546.1:c.112A>T (PGM1) | ENSP00000497812.1:p.Asn38Tyr | |
| ENST00000371084.7:c.112A>T (PGM1) | ENSP00000360125.3:p.Asn38Tyr | |
| ENST00000478138.1:n.122T>A (ITGB3BP) | ||
| NM_002633.2:c.112A>T (PGM1) | NP_002624.2:p.Asn38Tyr | |
| NM_002633.3:c.112A>T (PGM1) MANE Select | NP_002624.2:p.Asn38Tyr |