Linked Data
ClinVar Variation Id:
198852
dbSNP Id:
rs41278234
ExAC:
20:62630980 C / T
gnomAD v2:
20-62630980-C-T
gnomAD v3:
20-63999627-C-T
gnomAD v4:
20-63999627-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63999627C>T , CM000682.2:g.63999627C>T | GRCh38 |
| NC_000020.10:g.62630980C>T , CM000682.1:g.62630980C>T | GRCh37 |
| NC_000020.9:g.62101424C>T | NCBI36 |
| NG_029719.1:g.23550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266079.5:c.891C>T (PRPF6) MANE Select | ENSP00000266079.4:p.Leu297= | |
| ENST00000217130.4:c.-6-31671G>A (ZNF512B) | ENSP00000217130.3:n.-6-31671G>A | |
| ENST00000266079.4:c.891C>T (PRPF6) | ENSP00000266079.4:p.Leu297= | |
| ENST00000450537.5:c.-5-31672G>A (ZNF512B) | ENSP00000393795.1:n.-5-31672G>A | |
| NM_012469.3:c.891C>T (PRPF6) | NP_036601.2:p.Leu297= | |
| XM_006723769.2:c.891C>T (PRPF6) | XP_006723832.1:p.Leu297= | |
| XM_006723769.3:c.891C>T (PRPF6) | XP_006723832.1:p.Leu297= | |
| NM_012469.4:c.891C>T (PRPF6) MANE Select | NP_036601.2:p.Leu297= |