gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00057567 (EAS)
Genomes Max Group AF
0.00015691 (EAS)
Exomes Max Group AF
0.0005865 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611137T>C , CM000673.2:g.67611137T>C | GRCh38 |
| NC_000011.9:g.67378608T>C , CM000673.1:g.67378608T>C | GRCh37 |
| NC_000011.8:g.67135184T>C | NCBI36 |
| NG_013353.1:g.9286T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.843T>C MANE Select | ENSP00000322450.6:p.His281= | |
| ENST00000647561.1:c.843T>C | ENSP00000497587.1:p.His281= | |
| ENST00000322776.10:c.843T>C | ENSP00000322450.6:p.His281= | |
| ENST00000415352.6:c.822T>C | ENSP00000395368.2:p.His274= | |
| ENST00000526169.1:n.585T>C | ||
| ENST00000526770.5:n.1126T>C | ||
| ENST00000527355.5:c.132T>C | ENSP00000432637.1:p.His44= | |
| ENST00000529927.5:c.816T>C | ENSP00000436766.1:p.His272= | |
| ENST00000532303.5:c.540T>C | ENSP00000432015.1:p.His180= | |
| ENST00000533919.5:c.321T>C | ENSP00000435199.1:p.His107= | |
| NM_001166102.1:c.816T>C | NP_001159574.1:p.His272= | |
| NM_007103.3:c.843T>C | NP_009034.2:p.His281= | |
| NM_001166102.2:c.816T>C | NP_001159574.1:p.His272= | |
| NM_007103.4:c.843T>C MANE Select | NP_009034.2:p.His281= |