Linked Data
ClinVar Variation Id:
438209
dbSNP Id:
rs1554163993
gnomAD v4:
6-63721663-T-C
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63721663T>C , CM000668.2:g.63721663T>C | GRCh38 |
| NC_000006.11:g.64431559T>C , CM000668.1:g.64431559T>C | GRCh37 |
| NC_000006.10:g.64489518T>C | NCBI36 |
| NG_023443.1:g.1990560A>G | |
| NG_023443.2:g.1990563A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262043.8:c.*7955T>C (PHF3) MANE Select | ENSP00000262043.4:n.*7955T>C | |
| ENST00000503581.6:c.8368A>G (EYS) MANE Select | ENSP00000424243.1:p.Arg2790Gly | |
| ENST00000370616.6:c.8431A>G (EYS) | ENSP00000359650.2:p.Arg2811Gly | |
| ENST00000370618.7:c.8368A>G (EYS) | ENSP00000359652.4:p.Arg2790Gly | |
| ENST00000370621.7:c.8431A>G (EYS) | ENSP00000359655.3:p.Arg2811Gly | |
| ENST00000503581.5:c.8368A>G (EYS) | ENSP00000424243.1:p.Arg2790Gly | |
| ENST00000505138.1:c.363+10301T>C (PHF3) | ||
| NM_001142800.1:c.8368A>G (EYS) | NP_001136272.1:p.Arg2790Gly | |
| NM_001292009.1:c.8431A>G (EYS) | NP_001278938.1:p.Arg2811Gly | |
| NM_001142800.2:c.8368A>G (EYS) MANE Select | NP_001136272.1:p.Arg2790Gly | |
| NM_001290259.2:c.*7955T>C (PHF3) | NP_001277188.1:n.*7955T>C | |
| NM_001370348.2:c.*7955T>C (PHF3) MANE Select | NP_001357277.1:n.*7955T>C | |
| NM_001370349.2:c.*7955T>C (PHF3) | NP_001357278.1:n.*7955T>C | |
| NM_001370350.2:c.*7955T>C (PHF3) | NP_001357279.1:n.*7955T>C | |
| NM_015153.4:c.*7955T>C (PHF3) | NP_055968.1:n.*7955T>C | |
| NM_001292009.2:c.8431A>G (EYS) | NP_001278938.1:p.Arg2811Gly |