Linked Data
ClinVar Variation Id:
668472
ClinVar RCV Id:
RCV000827373
dbSNP Id:
rs201805940
ExAC:
1:64059119 G / A
gnomAD v2:
1-64059119-G-A
gnomAD v3:
1-63593448-G-A
gnomAD v4:
1-63593448-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593448G>A , CM000663.2:g.63593448G>A | GRCh38 |
| NC_000001.10:g.64059119G>A , CM000663.1:g.64059119G>A | GRCh37 |
| NC_000001.9:g.63831707G>A | NCBI36 |
| NG_016966.1:g.5173G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.-41G>A (PGM1) MANE Select | ENSP00000360125.3:n.-41G>A | |
| ENST00000650546.1:c.-41G>A (PGM1) | ENSP00000497812.1:n.-41G>A | |
| ENST00000371084.7:c.-41G>A (PGM1) | ENSP00000360125.3:n.-41G>A | |
| ENST00000478138.1:n.197+77C>T (ITGB3BP) | ||
| NM_002633.2:c.-41G>A (PGM1) | NP_002624.2:n.-41G>A | |
| NM_002633.3:c.-41G>A (PGM1) MANE Select | NP_002624.2:n.-41G>A |