Revel Score:
ENST00000506362
0.044
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00243949 (AFR)
Genomes Max Group AF
0.00218165 (AFR)
Exomes Max Group AF
0.00248604 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300761C>T , CM000666.2:g.6300761C>T | GRCh38 |
| NC_000004.11:g.6302488C>T , CM000666.1:g.6302488C>T | GRCh37 |
| NC_000004.10:g.6353389C>T | NCBI36 |
| NG_011700.1:g.35912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1002C>T | ENSP00000507852.1:p.His334= | |
| ENST00000683395.1:c.943C>T | ||
| ENST00000684087.1:c.966C>T | ENSP00000506978.1:p.His322= | |
| ENST00000506362.2:c.717C>T | ENSP00000424103.2:p.His239= | |
| ENST00000673642.1:c.661-36C>T | ENSP00000501242.1:n.661-36C>T | |
| ENST00000673991.1:c.1002C>T | ENSP00000501033.1:p.His334= | |
| ENST00000226760.5:c.966C>T MANE Select | ENSP00000226760.1:p.His322= | |
| ENST00000503569.5:c.966C>T | ENSP00000423337.1:p.His322= | |
| ENST00000506362.1:c.599C>T | ||
| ENST00000507765.1:n.1151C>T | ||
| ENST00000513395.1:n.524C>T | ||
| NM_001145853.1:c.966C>T | NP_001139325.1:p.His322= | |
| NM_006005.3:c.966C>T MANE Select | NP_005996.2:p.His322= | |
| XM_017008586.1:c.975C>T | XP_016864075.1:p.His325= |