Linked Data
ClinVar Variation Id:
339480
dbSNP Id:
rs151332876
ExAC:
20:62657327 C / T
gnomAD v2:
20-62657327-C-T
gnomAD v3:
20-64025974-C-T
gnomAD v4:
20-64025974-C-T
COSMIC:
COSM4100552
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.64025974C>T , CM000682.2:g.64025974C>T | GRCh38 |
| NC_000020.10:g.62657327C>T , CM000682.1:g.62657327C>T | GRCh37 |
| NC_000020.9:g.62127771C>T | NCBI36 |
| NG_029719.1:g.49897C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266079.5:c.1944C>T (PRPF6) MANE Select | ENSP00000266079.4:p.Ala648= | |
| ENST00000217130.4:c.-7+12565G>A (ZNF512B) | ENSP00000217130.3:n.-7+12565G>A | |
| ENST00000266079.4:c.1944C>T (PRPF6) | ENSP00000266079.4:p.Ala648= | |
| ENST00000450537.5:c.-6+22731G>A (ZNF512B) | ENSP00000393795.1:n.-6+22731G>A | |
| NM_012469.3:c.1944C>T (PRPF6) | NP_036601.2:p.Ala648= | |
| XM_006723769.2:c.1725C>T (PRPF6) | XP_006723832.1:p.Ala575= | |
| XM_006723769.3:c.1725C>T (PRPF6) | XP_006723832.1:p.Ala575= | |
| NM_012469.4:c.1944C>T (PRPF6) MANE Select | NP_036601.2:p.Ala648= |