Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.47740371G= , CM000669.2:g.47740371G= | GRCh38 |
| NC_000007.13:g.47779969G= , CM000669.1:g.47779969G= | GRCh37 |
| NC_000007.12:g.47746494G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648482.1:c.1702C= (PKD1L1) | ||
| ENST00000436444.5:c.*1171-44596C= (HUS1) | ENSP00000403844.1:n.*1171-44596C= |