Revel Score:
ENST00000398580
0.054
ENST00000503581 (MANE Select)
0.525
ENST00000370621
0.525
ENST00000370616
0.525
ENST00000505138
0.074
gnomAD v4:
Joint Max Group AF
0.0000635 (EAS)
Exomes Max Group AF
0.00007309 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63778111C>T , CM000668.2:g.63778111C>T | GRCh38 |
| NC_000006.11:g.64488004C>T , CM000668.1:g.64488004C>T | GRCh37 |
| NC_000006.10:g.64545963C>T | NCBI36 |
| NG_023443.1:g.1934115G>A | |
| NG_023443.2:g.1934115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.7793G>A (EYS) MANE Select | ENSP00000424243.1:p.Gly2598Asp | |
| ENST00000370616.6:c.7793G>A (EYS) | ENSP00000359650.2:p.Gly2598Asp | |
| ENST00000370618.7:c.7793G>A (EYS) | ENSP00000359652.4:p.Gly2598Asp | |
| ENST00000370621.7:c.7793G>A (EYS) | ENSP00000359655.3:p.Gly2598Asp | |
| ENST00000398580.3:c.1107G>A (EYS) | ||
| ENST00000420043.1:n.507C>T (PHF3) | ||
| ENST00000503581.5:c.7793G>A (EYS) | ENSP00000424243.1:p.Gly2598Asp | |
| ENST00000505138.1:c.409C>T (PHF3) | ||
| NM_001142800.1:c.7793G>A (EYS) | NP_001136272.1:p.Gly2598Asp | |
| NM_001292009.1:c.7793G>A (EYS) | NP_001278938.1:p.Gly2598Asp | |
| NM_001142800.2:c.7793G>A (EYS) MANE Select | NP_001136272.1:p.Gly2598Asp | |
| NM_001292009.2:c.7793G>A (EYS) | NP_001278938.1:p.Gly2598Asp |