Linked Data
ClinVar Variation Id:
444686
dbSNP Id:
rs74636274
ExAC:
6:64488001 T / C
gnomAD v2:
6-64488001-T-C
gnomAD v3:
6-63778108-T-C
gnomAD v4:
6-63778108-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63778108T>C , CM000668.2:g.63778108T>C | GRCh38 |
| NC_000006.11:g.64488001T>C , CM000668.1:g.64488001T>C | GRCh37 |
| NC_000006.10:g.64545960T>C | NCBI36 |
| NG_023443.1:g.1934118A>G | |
| NG_023443.2:g.1934118A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503581.6:c.7796A>G (EYS) MANE Select | ENSP00000424243.1:p.His2599Arg | |
| ENST00000370616.6:c.7796A>G (EYS) | ENSP00000359650.2:p.His2599Arg | |
| ENST00000370618.7:c.7796A>G (EYS) | ENSP00000359652.4:p.His2599Arg | |
| ENST00000370621.7:c.7796A>G (EYS) | ENSP00000359655.3:p.His2599Arg | |
| ENST00000398580.3:c.1110A>G (EYS) | ||
| ENST00000420043.1:n.504T>C (PHF3) | ||
| ENST00000503581.5:c.7796A>G (EYS) | ENSP00000424243.1:p.His2599Arg | |
| ENST00000505138.1:c.406T>C (PHF3) | ||
| NM_001142800.1:c.7796A>G (EYS) | NP_001136272.1:p.His2599Arg | |
| NM_001292009.1:c.7796A>G (EYS) | NP_001278938.1:p.His2599Arg | |
| NM_001142800.2:c.7796A>G (EYS) MANE Select | NP_001136272.1:p.His2599Arg | |
| NM_001292009.2:c.7796A>G (EYS) | NP_001278938.1:p.His2599Arg |