Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.213985602C>T , CM000663.2:g.213985602C>T | GRCh38 |
| NC_000001.10:g.214158945C>T , CM000663.1:g.214158945C>T | GRCh37 |
| NC_000001.9:g.212225568C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471129.1:c.-68+2279C>T (PROX1) | ENSP00000419517.1:n.-68+2279C>T | |
| NR_037850.2:n.85+467G>A (PROX1-AS1) | ||
| XM_011509773.1:c.-68+2279C>T (PROX1) | XP_011508075.1:n.-68+2279C>T | |
| XM_011509773.2:c.-68+2279C>T (PROX1) | XP_011508075.1:n.-68+2279C>T |