ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0004838 (AFR)
Genomes Max Group AF
0.00056198 (AFR)
Exomes Max Group AF
0.00027566 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119967599A>G , CM000663.2:g.119967599A>G | GRCh38 |
| NC_000001.10:g.120510222A>G , CM000663.1:g.120510222A>G | GRCh37 |
| NC_000001.9:g.120311745A>G | NCBI36 |
| NG_008163.1:g.107055T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.1287T>C MANE Select | ENSP00000256646.2:p.His429= | |
| ENST00000640021.1:c.507T>C | ENSP00000492223.1:n.507T>C | |
| ENST00000256646.6:c.1287T>C | ENSP00000256646.2:p.His429= | |
| ENST00000479412.2:n.1425T>C | ||
| ENST00000579475.7:c.1170T>C | ENSP00000477065.2:p.His390= | |
| NM_001200001.1:c.1287T>C | NP_001186930.1:p.His429= | |
| NM_024408.3:c.1287T>C | NP_077719.2:p.His429= | |
| XM_005270901.2:c.1170T>C | XP_005270958.1:p.His390= | |
| XM_011541519.1:c.1275T>C | XP_011539821.1:p.His425= | |
| XM_011541520.1:c.1170T>C | XP_011539822.1:p.His390= | |
| NM_024408.4:c.1287T>C MANE Select | NP_077719.2:p.His429= | |
| NM_001200001.2:c.1287T>C | NP_001186930.1:p.His429= |