Linked Data
ClinVar Variation Id:
252538
dbSNP Id:
rs111991705
ExAC:
6:64431505 C / T
gnomAD v2:
6-64431505-C-T
gnomAD v3:
6-63721609-C-T
gnomAD v4:
6-63721609-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63721609C>T , CM000668.2:g.63721609C>T | GRCh38 |
| NC_000006.11:g.64431505C>T , CM000668.1:g.64431505C>T | GRCh37 |
| NC_000006.10:g.64489464C>T | NCBI36 |
| NG_023443.1:g.1990614G>A | |
| NG_023443.2:g.1990617G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262043.8:c.*7901C>T (PHF3) MANE Select | ENSP00000262043.4:n.*7901C>T | |
| ENST00000503581.6:c.8422G>A (EYS) MANE Select | ENSP00000424243.1:p.Ala2808Thr | |
| ENST00000370616.6:c.8485G>A (EYS) | ENSP00000359650.2:p.Ala2829Thr | |
| ENST00000370618.7:c.8422G>A (EYS) | ENSP00000359652.4:p.Ala2808Thr | |
| ENST00000370621.7:c.8485G>A (EYS) | ENSP00000359655.3:p.Ala2829Thr | |
| ENST00000503581.5:c.8422G>A (EYS) | ENSP00000424243.1:p.Ala2808Thr | |
| ENST00000505138.1:c.363+10247C>T (PHF3) | ||
| NM_001142800.1:c.8422G>A (EYS) | NP_001136272.1:p.Ala2808Thr | |
| NM_001292009.1:c.8485G>A (EYS) | NP_001278938.1:p.Ala2829Thr | |
| NM_001142800.2:c.8422G>A (EYS) MANE Select | NP_001136272.1:p.Ala2808Thr | |
| NM_001290259.2:c.*7901C>T (PHF3) | NP_001277188.1:n.*7901C>T | |
| NM_001370348.2:c.*7901C>T (PHF3) MANE Select | NP_001357277.1:n.*7901C>T | |
| NM_001370349.2:c.*7901C>T (PHF3) | NP_001357278.1:n.*7901C>T | |
| NM_001370350.2:c.*7901C>T (PHF3) | NP_001357279.1:n.*7901C>T | |
| NM_015153.4:c.*7901C>T (PHF3) | NP_055968.1:n.*7901C>T | |
| NM_001292009.2:c.8485G>A (EYS) | NP_001278938.1:p.Ala2829Thr |