Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.68655310G>C , CM000664.2:g.68655310G>C | GRCh38 |
| NC_000002.11:g.68882442G>C , CM000664.1:g.68882442G>C | GRCh37 |
| NC_000002.10:g.68735946G>C | NCBI36 |
| NG_051312.1:g.16723G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138964.4:c.916G>C (PROKR1) MANE Select | NP_620414.1:p.Val306Leu |
| ENST00000303786.5:c.916G>C (PROKR1) MANE Select | ENSP00000303775.4:p.Val306Leu |
| NM_138964.2:c.916G>C (PROKR1) | NP_620414.1:p.Val306Leu |
| NM_138964.3:c.916G>C (PROKR1) | NP_620414.1:p.Val306Leu |
| ENST00000303786.4:c.916G>C (PROKR1) | ENSP00000303775.3:p.Val306Leu |
| ENST00000394342.2:c.916G>C (APLF) | ENSP00000377874.2:p.Val306Leu |
| ENST00000627740.1:n.1628G>C (APLF) |