Linked Data
gnomAD v4:
1-63593534-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63593534A>T , CM000663.2:g.63593534A>T | GRCh38 |
| NC_000001.10:g.64059205A>T , CM000663.1:g.64059205A>T | GRCh37 |
| NC_000001.9:g.63831793A>T | NCBI36 |
| NG_016966.1:g.5259A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.46A>T (PGM1) MANE Select | ENSP00000360125.3:p.Lys16Ter | |
| ENST00000650546.1:c.46A>T (PGM1) | ENSP00000497812.1:p.Lys16Ter | |
| ENST00000371084.7:c.46A>T (PGM1) | ENSP00000360125.3:p.Lys16Ter | |
| ENST00000478138.1:n.188T>A (ITGB3BP) | ||
| NM_002633.2:c.46A>T (PGM1) | NP_002624.2:p.Lys16Ter | |
| NM_002633.3:c.46A>T (PGM1) MANE Select | NP_002624.2:p.Lys16Ter |