Linked Data
dbSNP Id:
rs368246894
gnomAD v3:
1-63593410-C-A
gnomAD v4:
1-63593410-C-A
MyVariant Identifiers:
chr1:g.63593410C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593410C>A , CM000663.2:g.63593410C>A | GRCh38 |
| NC_000001.10:g.64059081C>A , CM000663.1:g.64059081C>A | GRCh37 |
| NC_000001.9:g.63831669C>A | NCBI36 |
| NG_016966.1:g.5135C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.7:c.-79C>A (PGM1) | ENSP00000360125.3:n.-79C>A | |
| ENST00000478138.1:n.197+115G>T (ITGB3BP) | ||
| NM_002633.2:c.-79C>A (PGM1) | NP_002624.2:n.-79C>A |