Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.64032994T>C , CM000682.2:g.64032994T>C | GRCh38 |
| NC_000020.10:g.62664347T>C , CM000682.1:g.62664347T>C | GRCh37 |
| NC_000020.9:g.62134791T>C | NCBI36 |
| NG_029719.1:g.56917T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012469.4:c.*1T>C (PRPF6) MANE Select | NP_036601.2:n.*1T>C |
| ENST00000266079.5:c.*1T>C (PRPF6) MANE Select | ENSP00000266079.4:n.*1T>C |
| NM_012469.3:c.*1T>C (PRPF6) | NP_036601.2:n.*1T>C |
| ENST00000217130.4:c.-7+5545A>G (ZNF512B) | ENSP00000217130.3:n.-7+5545A>G |
| ENST00000266079.4:c.*1T>C (PRPF6) | ENSP00000266079.4:n.*1T>C |
| ENST00000450537.5:c.-6+15711A>G (ZNF512B) | ENSP00000393795.1:n.-6+15711A>G |
| XM_006723769.2:c.*1T>C (PRPF6) | XP_006723832.1:n.*1T>C |
| XM_006723769.3:c.*1T>C (PRPF6) | XP_006723832.1:n.*1T>C |