Revel Score:
ENST00000307768
0.803
ENST00000543379
0.803
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9892955C>T , CM000665.2:g.9892955C>T | GRCh38 |
| NC_000003.11:g.9934639C>T , CM000665.1:g.9934639C>T | GRCh37 |
| NC_000003.10:g.9909639C>T | NCBI36 |
| NG_041779.1:g.7369C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489724.2:c.*83C>T | ENSP00000497724.1:n.*83C>T | |
| ENST00000647897.1:c.130C>T MANE Select | ENSP00000496942.1:p.His44Tyr | |
| ENST00000307768.4:c.130C>T | ENSP00000306106.4:p.His44Tyr | |
| ENST00000489724.1:n.326C>T | ||
| ENST00000616966.2:c.130C>T | ENSP00000481606.1:p.His44Tyr | |
| NM_032492.3:c.130C>T | NP_115881.3:p.His44Tyr | |
| NM_001363890.1:c.-33C>T | NP_001350819.1:n.-33C>T | |
| NM_032492.4:c.130C>T MANE Select | NP_115881.3:p.His44Tyr |