Linked Data
ClinVar Variation Id:
339470
dbSNP Id:
rs201984924
ExAC:
20:62632570 A / G
gnomAD v2:
20-62632570-A-G
gnomAD v3:
20-64001217-A-G
gnomAD v4:
20-64001217-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.64001217A>G , CM000682.2:g.64001217A>G | GRCh38 |
| NC_000020.10:g.62632570A>G , CM000682.1:g.62632570A>G | GRCh37 |
| NC_000020.9:g.62103014A>G | NCBI36 |
| NG_029719.1:g.25140A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266079.5:c.1164A>G (PRPF6) MANE Select | ENSP00000266079.4:p.Ala388= | |
| ENST00000217130.4:c.-6-33261T>C (ZNF512B) | ENSP00000217130.3:n.-6-33261T>C | |
| ENST00000266079.4:c.1164A>G (PRPF6) | ENSP00000266079.4:p.Ala388= | |
| ENST00000450537.5:c.-5-33262T>C (ZNF512B) | ENSP00000393795.1:n.-5-33262T>C | |
| NM_012469.3:c.1164A>G (PRPF6) | NP_036601.2:p.Ala388= | |
| XM_006723769.2:c.1164A>G (PRPF6) | XP_006723832.1:p.Ala388= | |
| XM_006723769.3:c.1164A>G (PRPF6) | XP_006723832.1:p.Ala388= | |
| NM_012469.4:c.1164A>G (PRPF6) MANE Select | NP_036601.2:p.Ala388= |