gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616034G>A , CM000673.2:g.6616034G>A | GRCh38 |
| NC_000011.9:g.6637265G>A , CM000673.1:g.6637265G>A | GRCh37 |
| NC_000011.8:g.6593841G>A | NCBI36 |
| NG_008653.1:g.8428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1002C>T | ENSP00000507321.1:p.His334= | |
| ENST00000299427.12:c.1116C>T MANE Select | ENSP00000299427.6:p.His372= | |
| ENST00000436873.7:c.353C>T | ||
| ENST00000524924.2:n.236C>T | ||
| ENST00000533371.6:c.387C>T | ENSP00000437066.1:p.His129= | |
| ENST00000642892.1:c.387C>T | ENSP00000494165.1:p.His129= | |
| ENST00000643342.1:c.206C>T | ||
| ENST00000643439.1:c.*856C>T | ENSP00000495849.1:n.*856C>T | |
| ENST00000643479.1:n.1302C>T | ||
| ENST00000643516.1:c.625C>T | ||
| ENST00000644218.1:c.927C>T | ENSP00000493574.1:p.His309= | |
| ENST00000644683.1:c.*569C>T | ENSP00000494085.1:n.*569C>T | |
| ENST00000644810.1:c.837C>T | ENSP00000495895.1:p.His279= | |
| ENST00000644831.1:n.1292C>T | ||
| ENST00000644933.1:c.387C>T | ENSP00000496133.1:p.His129= | |
| ENST00000645285.1:c.198C>T | ENSP00000495058.1:p.His66= | |
| ENST00000645331.1:n.1879C>T | ||
| ENST00000645620.1:c.387C>T | ENSP00000493657.1:p.His129= | |
| ENST00000646691.1:n.449C>T | ||
| ENST00000646777.1:n.1449C>T | ||
| ENST00000647016.1:n.1596C>T | ||
| ENST00000647152.1:c.387C>T | ENSP00000495893.1:p.His129= | |
| ENST00000647209.1:c.*985C>T | ENSP00000495558.1:n.*985C>T | |
| ENST00000647346.1:n.2136C>T | ||
| ENST00000299427.10:c.1116C>T | ENSP00000299427.6:p.His372= | |
| ENST00000524924.1:n.71C>T | ||
| ENST00000533371.5:c.387C>T | ENSP00000437066.1:p.His129= | |
| ENST00000611494.4:c.1116C>T | ENSP00000484546.1:p.His372= | |
| NM_000391.3:c.1116C>T | NP_000382.3:p.His372= | |
| NM_000391.4:c.1116C>T MANE Select | NP_000382.3:p.His372= |