Linked Data
ClinVar Variation Id:
143115
dbSNP Id:
rs527236067
gnomAD v2:
6-64431122-G-T
gnomAD v3:
6-63721226-G-T
gnomAD v4:
6-63721226-G-T
COSMIC:
COSM1187074
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.63721226G>T , CM000668.2:g.63721226G>T | GRCh38 |
| NC_000006.11:g.64431122G>T , CM000668.1:g.64431122G>T | GRCh37 |
| NC_000006.10:g.64489081G>T | NCBI36 |
| NG_023443.1:g.1990997C>A | |
| NG_023443.2:g.1991000C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262043.8:c.*7518G>T (PHF3) MANE Select | ENSP00000262043.4:n.*7518G>T | |
| ENST00000503581.6:c.8805C>A (EYS) MANE Select | ENSP00000424243.1:p.Tyr2935Ter | |
| ENST00000370616.6:c.8868C>A (EYS) | ENSP00000359650.2:p.Tyr2956Ter | |
| ENST00000370618.7:c.8805C>A (EYS) | ENSP00000359652.4:p.Tyr2935Ter | |
| ENST00000370621.7:c.8868C>A (EYS) | ENSP00000359655.3:p.Tyr2956Ter | |
| ENST00000503581.5:c.8805C>A (EYS) | ENSP00000424243.1:p.Tyr2935Ter | |
| ENST00000505138.1:c.363+9864G>T (PHF3) | ||
| NM_001142800.1:c.8805C>A (EYS) | NP_001136272.1:p.Tyr2935Ter | |
| NM_001292009.1:c.8868C>A (EYS) | NP_001278938.1:p.Tyr2956Ter | |
| NM_001142800.2:c.8805C>A (EYS) MANE Select | NP_001136272.1:p.Tyr2935Ter | |
| NM_001290259.2:c.*7518G>T (PHF3) | NP_001277188.1:n.*7518G>T | |
| NM_001370348.2:c.*7518G>T (PHF3) MANE Select | NP_001357277.1:n.*7518G>T | |
| NM_001370349.2:c.*7518G>T (PHF3) | NP_001357278.1:n.*7518G>T | |
| NM_001370350.2:c.*7518G>T (PHF3) | NP_001357279.1:n.*7518G>T | |
| NM_015153.4:c.*7518G>T (PHF3) | NP_055968.1:n.*7518G>T | |
| NM_001292009.2:c.8868C>A (EYS) | NP_001278938.1:p.Tyr2956Ter |