Revel Score:
ENST00000315289
0.045
ENST00000395265
0.045
ENST00000373789 (MANE Select)
0.045
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.89576577 (EAS)
Genomes Max Group AF
0.88605745 (EAS)
Exomes Max Group AF
0.8947045 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62198353T>C , CM000672.2:g.62198353T>C | GRCh38 |
| NC_000010.10:g.63958112T>C , CM000672.1:g.63958112T>C | GRCh37 |
| NC_000010.9:g.63628118T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373789.8:c.1385A>G MANE Select | ENSP00000362894.3:p.His462Arg | |
| ENST00000315289.6:c.791A>G | ENSP00000325379.2:p.His264Arg | |
| ENST00000373789.7:c.1385A>G | ENSP00000362894.3:p.His462Arg | |
| NM_145307.3:c.1385A>G | NP_660350.2:p.His462Arg | |
| XM_006717695.2:c.1448A>G | XP_006717758.1:p.His483Arg | |
| XM_011539456.1:c.1490A>G | XP_011537758.1:p.His497Arg | |
| XM_011539457.1:c.1490A>G | XP_011537759.1:p.His497Arg | |
| XM_011539458.1:c.1157A>G | XP_011537760.1:p.His386Arg | |
| XM_011539459.1:c.1448A>G | XP_011537761.1:p.His483Arg | |
| XM_011539460.1:c.1490A>G | XP_011537762.1:p.His497Arg | |
| XM_011539461.1:c.611A>G | XP_011537763.1:p.His204Arg | |
| XM_011539456.2:c.1490A>G | XP_011537758.1:p.His497Arg | |
| XM_011539457.3:c.1490A>G | XP_011537759.1:p.His497Arg | |
| XM_011539460.2:c.1490A>G | XP_011537762.1:p.His497Arg | |
| XM_017015843.1:c.1490A>G | XP_016871332.1:p.His497Arg | |
| XM_017015844.2:c.1385A>G | XP_016871333.1:p.His462Arg | |
| XR_001747053.1:n.1768A>G | ||
| NM_145307.4:c.1385A>G MANE Select | NP_660350.2:p.His462Arg |