gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007267 (EAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00008212 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727922G>A , CM000678.2:g.3727922G>A | GRCh38 |
| NC_000016.9:g.3777923G>A , CM000678.1:g.3777923G>A | GRCh37 |
| NC_000016.8:g.3717924G>A | NCBI36 |
| NG_009873.1:g.157199C>T | |
| NG_009873.2:g.157792C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7125C>T MANE Select | ENSP00000262367.5:p.His2375= | |
| ENST00000262367.9:c.7125C>T | ENSP00000262367.5:p.His2375= | |
| ENST00000382070.7:c.7011C>T | ENSP00000371502.3:p.His2337= | |
| NM_001079846.1:c.7011C>T | NP_001073315.1:p.His2337= | |
| NM_004380.2:c.7125C>T | NP_004371.2:p.His2375= | |
| XM_005255124.3:c.7080C>T | XP_005255181.1:p.His2360= | |
| XM_005255125.3:c.6708C>T | XP_005255182.1:p.His2236= | |
| XM_006720848.2:c.6864C>T | XP_006720911.1:p.His2288= | |
| XM_011522380.1:c.7071C>T | XP_011520682.1:p.His2357= | |
| XM_011522381.1:c.6372C>T | XP_011520683.1:p.His2124= | |
| XM_005255124.4:c.7080C>T | XP_005255181.1:p.His2360= | |
| XM_005255125.4:c.6708C>T | XP_005255182.1:p.His2236= | |
| XM_006720848.3:c.6864C>T | XP_006720911.1:p.His2288= | |
| XM_011522381.2:c.6372C>T | XP_011520683.1:p.His2124= | |
| XM_017022944.1:c.7119C>T | XP_016878433.1:p.His2373= | |
| NM_004380.3:c.7125C>T MANE Select | NP_004371.2:p.His2375= |