gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00046122 (EAS)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00050074 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19764999C>T , CM000684.2:g.19764999C>T | GRCh38 |
| NC_000022.10:g.19752522C>T , CM000684.1:g.19752522C>T | GRCh37 |
| NC_000022.9:g.18132522C>T | NCBI36 |
| NG_009229.1:g.13297C>T , LRG_226:g.13297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700274.1:c.279C>T | ENSP00000514909.1:p.His93= | |
| ENST00000649276.2:c.753C>T MANE Select | ENSP00000497003.1:p.His251= | |
| ENST00000329705.11:c.726C>T | ENSP00000331176.7:p.His242= | |
| ENST00000332710.8:c.726C>T | ENSP00000331791.4:p.His242= | |
| ENST00000359500.7:c.726C>T | ENSP00000352483.3:p.His242= | |
| ENST00000621939.1:c.726C>T | ENSP00000477982.1:p.His242= | |
| NM_005992.1:c.726C>T | NP_005983.1:p.His242= | |
| NM_080646.1:c.726C>T | NP_542377.1:p.His242= | |
| NM_080647.1:c.726C>T , LRG_226t1:c.726C>T | NP_542378.1:p.His242= | |
| XM_006724312.1:c.726C>T | XP_006724375.1:p.His242= | |
| XM_011530351.1:c.753C>T | XP_011528653.1:p.His251= | |
| XM_006724312.2:c.726C>T | XP_006724375.1:p.His242= | |
| XM_017028925.1:c.876C>T | XP_016884414.1:p.His292= | |
| XM_017028926.1:c.726C>T | XP_016884415.1:p.His242= | |
| XM_017028927.1:c.27C>T | XP_016884416.1:p.His9= | |
| XM_017028928.1:c.876C>T | XP_016884417.1:p.His292= | |
| NM_001379200.1:c.753C>T MANE Select | NP_001366129.1:p.His251= | |
| NM_080646.2:c.726C>T | NP_542377.1:p.His242= |