Linked Data
ClinVar Variation Id:
357685
dbSNP Id:
rs139944387
ExAC:
6:64430690 T / C
gnomAD v2:
6-64430690-T-C
gnomAD v3:
6-63720794-T-C
gnomAD v4:
6-63720794-T-C
COSMIC:
COSM4004110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63720794T>C , CM000668.2:g.63720794T>C | GRCh38 |
| NC_000006.11:g.64430690T>C , CM000668.1:g.64430690T>C | GRCh37 |
| NC_000006.10:g.64488649T>C | NCBI36 |
| NG_023443.1:g.1991429A>G | |
| NG_023443.2:g.1991432A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262043.8:c.*7086T>C (PHF3) MANE Select | ENSP00000262043.4:n.*7086T>C | |
| ENST00000503581.6:c.9237A>G (EYS) MANE Select | ENSP00000424243.1:p.Leu3079= | |
| ENST00000370616.6:c.9300A>G (EYS) | ENSP00000359650.2:p.Leu3100= | |
| ENST00000370618.7:c.9237A>G (EYS) | ENSP00000359652.4:p.Leu3079= | |
| ENST00000370621.7:c.9300A>G (EYS) | ENSP00000359655.3:p.Leu3100= | |
| ENST00000503581.5:c.9237A>G (EYS) | ENSP00000424243.1:p.Leu3079= | |
| ENST00000505138.1:c.363+9432T>C (PHF3) | ||
| NM_001142800.1:c.9237A>G (EYS) | NP_001136272.1:p.Leu3079= | |
| NM_001292009.1:c.9300A>G (EYS) | NP_001278938.1:p.Leu3100= | |
| NM_001142800.2:c.9237A>G (EYS) MANE Select | NP_001136272.1:p.Leu3079= | |
| NM_001290259.2:c.*7086T>C (PHF3) | NP_001277188.1:n.*7086T>C | |
| NM_001370348.2:c.*7086T>C (PHF3) MANE Select | NP_001357277.1:n.*7086T>C | |
| NM_001370349.2:c.*7086T>C (PHF3) | NP_001357278.1:n.*7086T>C | |
| NM_001370350.2:c.*7086T>C (PHF3) | NP_001357279.1:n.*7086T>C | |
| NM_015153.4:c.*7086T>C (PHF3) | NP_055968.1:n.*7086T>C | |
| NM_001292009.2:c.9300A>G (EYS) | NP_001278938.1:p.Leu3100= |