Linked Data
ClinVar Variation Id:
143116
dbSNP Id:
rs183589498
ExAC:
6:64430718 A / G
gnomAD v2:
6-64430718-A-G
gnomAD v3:
6-63720822-A-G
gnomAD v4:
6-63720822-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63720822A>G , CM000668.2:g.63720822A>G | GRCh38 |
| NC_000006.11:g.64430718A>G , CM000668.1:g.64430718A>G | GRCh37 |
| NC_000006.10:g.64488677A>G | NCBI36 |
| NG_023443.1:g.1991401T>C | |
| NG_023443.2:g.1991404T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262043.8:c.*7114A>G (PHF3) MANE Select | ENSP00000262043.4:n.*7114A>G | |
| ENST00000503581.6:c.9209T>C (EYS) MANE Select | ENSP00000424243.1:p.Ile3070Thr | |
| ENST00000370616.6:c.9272T>C (EYS) | ENSP00000359650.2:p.Ile3091Thr | |
| ENST00000370618.7:c.9209T>C (EYS) | ENSP00000359652.4:p.Ile3070Thr | |
| ENST00000370621.7:c.9272T>C (EYS) | ENSP00000359655.3:p.Ile3091Thr | |
| ENST00000503581.5:c.9209T>C (EYS) | ENSP00000424243.1:p.Ile3070Thr | |
| ENST00000505138.1:c.363+9460A>G (PHF3) | ||
| NM_001142800.1:c.9209T>C (EYS) | NP_001136272.1:p.Ile3070Thr | |
| NM_001292009.1:c.9272T>C (EYS) | NP_001278938.1:p.Ile3091Thr | |
| NM_001142800.2:c.9209T>C (EYS) MANE Select | NP_001136272.1:p.Ile3070Thr | |
| NM_001290259.2:c.*7114A>G (PHF3) | NP_001277188.1:n.*7114A>G | |
| NM_001370348.2:c.*7114A>G (PHF3) MANE Select | NP_001357277.1:n.*7114A>G | |
| NM_001370349.2:c.*7114A>G (PHF3) | NP_001357278.1:n.*7114A>G | |
| NM_001370350.2:c.*7114A>G (PHF3) | NP_001357279.1:n.*7114A>G | |
| NM_015153.4:c.*7114A>G (PHF3) | NP_055968.1:n.*7114A>G | |
| NM_001292009.2:c.9272T>C (EYS) | NP_001278938.1:p.Ile3091Thr |