COSMIC:
COSM1131202 (not active)
COSM1131203 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82946324 (EAS)
Genomes Max Group AF
0.80120334 (EAS)
Exomes Max Group AF
0.83106649 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.157317678T>C , CM000666.2:g.157317678T>C | GRCh38 |
| NC_000004.11:g.158238830T>C , CM000666.1:g.158238830T>C | GRCh37 |
| NC_000004.10:g.158458280T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703717.1:c.546T>C | ENSP00000515446.1:p.His182= | |
| ENST00000703718.1:c.447T>C | ENSP00000515447.1:p.His149= | |
| ENST00000703719.1:c.288-3760T>C | ||
| ENST00000703750.1:c.546T>C | ENSP00000515459.1:p.His182= | |
| ENST00000703751.1:c.687T>C | ENSP00000515460.1:p.His229= | |
| ENST00000703752.1:c.546T>C | ENSP00000515461.1:p.His182= | |
| ENST00000703753.1:c.687T>C | ENSP00000515462.1:p.His229= | |
| ENST00000703754.1:c.546T>C | ENSP00000515463.1:p.His182= | |
| ENST00000703755.1:c.687T>C | ENSP00000515464.1:p.His229= | |
| ENST00000703756.1:c.447T>C | ENSP00000515465.1:p.His149= | |
| ENST00000703757.1:c.687T>C | ENSP00000515466.1:p.His229= | |
| ENST00000703758.1:n.1012T>C | ||
| ENST00000703759.1:c.687T>C | ENSP00000515467.1:p.His229= | |
| ENST00000703760.1:c.687T>C | ENSP00000515468.1:p.His229= | |
| ENST00000703761.1:c.525+4803T>C | ENSP00000515469.1:n.525+4803T>C | |
| ENST00000703762.1:n.1000T>C | ||
| ENST00000703763.1:c.687T>C | ENSP00000515470.1:p.His229= | |
| ENST00000703764.1:c.546T>C | ENSP00000515471.1:p.His182= | |
| ENST00000703765.1:c.546T>C | ENSP00000515472.1:p.His182= | |
| ENST00000703766.1:c.496T>C | ||
| ENST00000703767.1:c.306T>C | ENSP00000515474.1:p.His102= | |
| ENST00000264426.14:c.687T>C MANE Select | ENSP00000264426.9:p.His229= | |
| ENST00000296526.12:c.687T>C | ENSP00000296526.7:p.His229= | |
| ENST00000645636.1:c.687T>C | ENSP00000495569.1:p.His229= | |
| ENST00000264426.13:c.687T>C | ENSP00000264426.9:p.His229= | |
| ENST00000296526.11:c.687T>C | ENSP00000296526.7:p.His229= | |
| ENST00000323661.10:c.546T>C | ENSP00000318144.6:p.His182= | |
| ENST00000393815.6:c.546T>C | ENSP00000377403.2:p.His182= | |
| ENST00000471736.5:n.1006T>C | ||
| ENST00000503437.1:c.306T>C | ENSP00000426784.1:p.His102= | |
| ENST00000507898.5:c.546T>C | ENSP00000426845.1:p.His182= | |
| NM_000826.3:c.687T>C | NP_000817.2:p.His229= | |
| NM_001083619.1:c.687T>C | NP_001077088.1:p.His229= | |
| NM_001083620.1:c.546T>C | NP_001077089.1:p.His182= | |
| XM_011531892.1:c.687T>C | XP_011530194.1:p.His229= | |
| XR_938725.1:n.1145T>C | ||
| XR_001741212.2:n.1107T>C | ||
| NM_000826.4:c.687T>C | NP_000817.3:p.His229= | |
| NM_000826.6:c.687T>C | NP_000817.5:p.His229= | |
| NM_001083619.3:c.687T>C MANE Select | NP_001077088.2:p.His229= | |
| NM_001083620.3:c.546T>C | NP_001077089.2:p.His182= | |
| NM_001379000.3:c.546T>C | NP_001365929.3:p.His182= | |
| NM_001379001.3:c.546T>C | NP_001365930.3:p.His182= |