ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019857 (AFR)
Genomes Max Group AF
0.00020404 (AFR)
Exomes Max Group AF
0.00011826 (AFR)
Revel Score:
ENST00000339994 (MANE Select)
0.927
ENST00000528731
0.927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387151C>T , CM000673.2:g.17387151C>T | GRCh38 |
| NC_000011.9:g.17408698C>T , CM000673.1:g.17408698C>T | GRCh37 |
| NC_000011.8:g.17365274C>T | NCBI36 |
| NG_012446.1:g.6509G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.680G>A | ENSP00000508090.1:p.Arg227His | |
| ENST00000682764.1:c.680G>A | ENSP00000506780.1:p.Arg227His | |
| ENST00000339994.5:c.941G>A MANE Select | ENSP00000345708.4:p.Arg314His | |
| ENST00000339994.4:c.941G>A | ENSP00000345708.4:p.Arg314His | |
| ENST00000528731.1:c.680G>A | ENSP00000434755.1:p.Arg227His | |
| NM_000525.3:c.941G>A | NP_000516.3:p.Arg314His | |
| NM_001166290.1:c.680G>A | NP_001159762.1:p.Arg227His | |
| XM_006718226.2:c.680G>A | XP_006718289.1:p.Arg227His | |
| XR_930867.1:n.1099G>A | ||
| XM_006718226.3:c.680G>A | XP_006718289.1:p.Arg227His | |
| XM_017017680.1:c.680G>A | XP_016873169.1:p.Arg227His | |
| NM_001166290.2:c.680G>A | NP_001159762.1:p.Arg227His | |
| NM_001377296.1:c.680G>A | NP_001364225.1:p.Arg227His | |
| NM_001377297.1:c.680G>A | NP_001364226.1:p.Arg227His | |
| NM_000525.4:c.941G>A MANE Select | NP_000516.3:p.Arg314His |