ClinGen Evidence Repository:
Classification
Pathogenic
Condition
von Hippel-Lindau disease
VCEP
VHL VCEP
CIViC:
COSMIC:
Revel Score:
ENST00000256474 (MANE Select)
0.767
ENST00000345392
0.767
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142080A>G , CM000665.2:g.10142080A>G | GRCh38 |
| NC_000003.11:g.10183764A>G , CM000665.1:g.10183764A>G | GRCh37 |
| NC_000003.10:g.10158764A>G | NCBI36 |
| NG_008212.3:g.5446A>G , LRG_322:g.5446A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.233A>G | ENSP00000512434.1:p.Asn78Ser | |
| ENST00000696143.1:c.233A>G | ENSP00000512435.1:p.Asn78Ser | |
| ENST00000696153.1:c.233A>G | ENSP00000512444.1:p.Asn78Ser | |
| ENST00000256474.3:c.233A>G MANE Select | ENSP00000256474.3:p.Asn78Ser | |
| ENST00000256474.2:c.233A>G | ENSP00000256474.2:p.Asn78Ser | |
| ENST00000345392.2:c.233A>G | ENSP00000344757.2:p.Asn78Ser | |
| NM_000551.3:c.233A>G , LRG_322t1:c.233A>G | NP_000542.1:p.Asn78Ser | |
| NM_198156.2:c.233A>G | NP_937799.1:p.Asn78Ser | |
| XM_011534078.1:c.233A>G | XP_011532380.1:p.Asn78Ser | |
| NM_001354723.1:c.233A>G | NP_001341652.1:p.Asn78Ser | |
| NM_000551.4:c.233A>G MANE Select | NP_000542.1:p.Asn78Ser | |
| NM_001354723.2:c.233A>G | NP_001341652.1:p.Asn78Ser | |
| NM_198156.3:c.233A>G | NP_937799.1:p.Asn78Ser |