gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022538 (MID)
Genomes Max Group AF
0.00014825 (AFR)
Exomes Max Group AF
0.00023608 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.63636260T>C , CM000663.2:g.63636260T>C | GRCh38 |
| NC_000001.10:g.64101931T>C , CM000663.1:g.64101931T>C | GRCh37 |
| NC_000001.9:g.63874519T>C | NCBI36 |
| NG_016966.1:g.47985T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371084.8:c.900T>C MANE Select | ENSP00000360125.3:p.His300= | |
| ENST00000650546.1:c.900T>C | ENSP00000497812.1:p.His300= | |
| ENST00000371083.4:c.954T>C | ENSP00000360124.4:p.His318= | |
| ENST00000371084.7:c.900T>C | ENSP00000360125.3:p.His300= | |
| ENST00000540265.5:c.309T>C | ENSP00000443449.1:p.His103= | |
| NM_001172818.1:c.954T>C | NP_001166289.1:p.His318= | |
| NM_001172819.1:c.309T>C | NP_001166290.1:p.His103= | |
| NM_002633.2:c.900T>C | NP_002624.2:p.His300= | |
| NM_002633.3:c.900T>C MANE Select | NP_002624.2:p.His300= | |
| NM_001172819.2:c.309T>C | NP_001166290.1:p.His103= |