gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00075051 (NFE)
Genomes Max Group AF
0.00074227 (NFE)
Exomes Max Group AF
0.00074157 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15750147G>A , CM000678.2:g.15750147G>A | GRCh38 |
| NC_000016.9:g.15844004G>A , CM000678.1:g.15844004G>A | GRCh37 |
| NC_000016.8:g.15751505G>A | NCBI36 |
| NG_009299.1:g.111884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.2049C>T MANE Select | ENSP00000300036.5:p.His683= | |
| ENST00000452625.7:c.2070C>T MANE Plus Clinical | ENSP00000407821.2:p.His690= | |
| ENST00000576790.7:c.2049C>T | ENSP00000458731.1:p.His683= | |
| ENST00000652121.1:c.*232C>T | ENSP00000498314.1:n.*232C>T | |
| ENST00000300036.5:c.2049C>T | ENSP00000300036.5:p.His683= | |
| ENST00000396324.7:c.2070C>T | ENSP00000379616.3:p.His690= | |
| ENST00000452625.6:c.2070C>T | ENSP00000407821.2:p.His690= | |
| ENST00000570785.1:n.2471C>T | ||
| ENST00000576790.6:c.2049C>T | ENSP00000458731.1:p.His683= | |
| ENST00000616439.4:c.2070C>T | ENSP00000484924.1:p.His690= | |
| NM_001040113.1:c.2070C>T | NP_001035202.1:p.His690= | |
| NM_001040114.1:c.2070C>T | NP_001035203.1:p.His690= | |
| NM_002474.2:c.2049C>T | NP_002465.1:p.His683= | |
| NM_022844.2:c.2049C>T | NP_074035.1:p.His683= | |
| XM_011522502.1:c.2049C>T | XP_011520804.1:p.His683= | |
| XM_011522502.2:c.2049C>T | XP_011520804.1:p.His683= | |
| XM_017023250.1:c.2070C>T | XP_016878739.1:p.His690= | |
| NM_002474.3:c.2049C>T MANE Select | NP_002465.1:p.His683= | |
| NM_001040113.2:c.2070C>T MANE Plus Clinical | NP_001035202.1:p.His690= | |
| NM_001040114.2:c.2070C>T | NP_001035203.1:p.His690= | |
| NM_022844.3:c.2049C>T | NP_074035.1:p.His683= |