Linked Data
ClinVar Variation Id:
357688
dbSNP Id:
rs886061666
gnomAD v2:
6-64436404-A-C
gnomAD v3:
6-63726511-A-C
gnomAD v4:
6-63726511-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63726511A>C , CM000668.2:g.63726511A>C | GRCh38 |
| NC_000006.11:g.64436404A>C , CM000668.1:g.64436404A>C | GRCh37 |
| NC_000006.10:g.64494363A>C | NCBI36 |
| NG_023443.1:g.1985715T>G | |
| NG_023443.2:g.1985715T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.8233+8T>G (EYS) MANE Select | ENSP00000424243.1:n.8233+8T>G | |
| ENST00000370616.6:c.8296+8T>G (EYS) | ENSP00000359650.2:n.8296+8T>G | |
| ENST00000370618.7:c.8233+8T>G (EYS) | ENSP00000359652.4:n.8233+8T>G | |
| ENST00000370621.7:c.8296+8T>G (EYS) | ENSP00000359655.3:n.8296+8T>G | |
| ENST00000503581.5:c.8233+8T>G (EYS) | ENSP00000424243.1:n.8233+8T>G | |
| ENST00000505138.1:c.363+15149A>C (PHF3) | ||
| NM_001142800.1:c.8233+8T>G (EYS) | NP_001136272.1:n.8233+8T>G | |
| NM_001292009.1:c.8296+8T>G (EYS) | NP_001278938.1:n.8296+8T>G | |
| NM_001142800.2:c.8233+8T>G (EYS) MANE Select | NP_001136272.1:n.8233+8T>G | |
| NM_001292009.2:c.8296+8T>G (EYS) | NP_001278938.1:n.8296+8T>G |