gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00087833 (NFE)
Genomes Max Group AF
0.00055979 (NFE)
Exomes Max Group AF
0.00088982 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49461531G>A , CM000672.2:g.49461531G>A | GRCh38 |
| NC_000010.10:g.50669577G>A , CM000672.1:g.50669577G>A | GRCh37 |
| NC_000010.9:g.50339583G>A | NCBI36 |
| NG_009442.1:g.82571C>T , LRG_465:g.82571C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3804C>T MANE Select | ENSP00000348089.5:p.His1268= | |
| ENST00000679552.1:n.875C>T | ||
| ENST00000679871.1:n.950C>T | ||
| ENST00000679974.1:n.853C>T | ||
| ENST00000681632.1:n.5207C>T | ||
| ENST00000681659.1:c.3645C>T | ENSP00000505631.1:p.His1215= | |
| ENST00000355832.9:c.3804C>T | ENSP00000348089.5:p.His1268= | |
| ENST00000465653.1:n.126C>T | ||
| ENST00000623073.3:c.*2100C>T | ENSP00000485650.1:n.*2100C>T | |
| ENST00000623115.3:c.1914C>T | ENSP00000485321.1:p.His638= | |
| ENST00000624341.3:c.1636C>T | ||
| NM_000124.3:c.3804C>T | NP_000115.1:p.His1268= | |
| XR_945953.1:n.243-10034G>A | ||
| NM_001346440.1:c.3804C>T | NP_001333369.1:p.His1268= | |
| NM_000124.4:c.3804C>T MANE Select | NP_000115.1:p.His1268= | |
| NM_001346440.2:c.3804C>T | NP_001333369.1:p.His1268= |