Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67726153T>C , CM000676.2:g.67726153T>C | GRCh38 |
| NC_000014.8:g.68192870T>C , CM000676.1:g.68192870T>C | GRCh37 |
| NC_000014.7:g.67262623T>C | NCBI36 |
| NG_008321.1:g.29268T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152443.3:c.446T>C (RDH12) MANE Select | NP_689656.2:p.Leu149Pro |
| ENST00000551171.6:c.446T>C (RDH12) MANE Select | ENSP00000449079.1:p.Leu149Pro |
| NM_152443.2:c.446T>C (RDH12) | NP_689656.2:p.Leu149Pro |
| ENST00000267502.3:c.446T>C (RDH12) | ENSP00000267502.3:p.Leu149Pro |
| ENST00000551171.5:c.446T>C (RDH12) | ENSP00000449079.1:p.Leu149Pro |
| XM_017020925.2:c.1313-9042T>C (GPHN) | XP_016876414.1:n.1313-9042T>C |