Linked Data
ClinVar Variation Id:
143113
dbSNP Id:
rs527236076
gnomAD v2:
6-64472413-A-T
gnomAD v4:
6-63762520-A-T
COSMIC:
COSM5016805
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63762520A>T , CM000668.2:g.63762520A>T | GRCh38 |
| NC_000006.11:g.64472413A>T , CM000668.1:g.64472413A>T | GRCh37 |
| NC_000006.10:g.64530372A>T | NCBI36 |
| NG_023443.1:g.1949706T>A | |
| NG_023443.2:g.1949706T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503581.6:c.8012T>A (EYS) MANE Select | ENSP00000424243.1:p.Leu2671Ter | |
| ENST00000370616.6:c.8012T>A (EYS) | ENSP00000359650.2:p.Leu2671Ter | |
| ENST00000370618.7:c.8012T>A (EYS) | ENSP00000359652.4:p.Leu2671Ter | |
| ENST00000370621.7:c.8012T>A (EYS) | ENSP00000359655.3:p.Leu2671Ter | |
| ENST00000398580.3:c.1326T>A (EYS) | ||
| ENST00000503581.5:c.8012T>A (EYS) | ENSP00000424243.1:p.Leu2671Ter | |
| ENST00000505138.1:c.364-15546A>T (PHF3) | ||
| NM_001142800.1:c.8012T>A (EYS) | NP_001136272.1:p.Leu2671Ter | |
| NM_001292009.1:c.8012T>A (EYS) | NP_001278938.1:p.Leu2671Ter | |
| NM_001142800.2:c.8012T>A (EYS) MANE Select | NP_001136272.1:p.Leu2671Ter | |
| NM_001292009.2:c.8012T>A (EYS) | NP_001278938.1:p.Leu2671Ter |