ClinGen Classification:
Classification
Uncertain Significance
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005285 (AFR)
Genomes Max Group AF
0.0000474 (AFR)
Exomes Max Group AF
0.0000238 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34792534G>A , CM000683.2:g.34792534G>A | GRCh38 |
| NC_000021.8:g.36164831G>A , CM000683.1:g.36164831G>A | GRCh37 |
| NC_000021.7:g.35086701G>A | NCBI36 |
| NG_011402.2:g.1197178C>T , LRG_482:g.1197178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.1044C>T MANE Select | ENSP00000501943.1:p.His348= | |
| ENST00000300305.7:c.1044C>T | ENSP00000300305.3:p.His348= | |
| ENST00000344691.8:c.963C>T | ENSP00000340690.4:p.His321= | |
| ENST00000399240.5:c.771C>T | ENSP00000382184.1:p.His257= | |
| ENST00000437180.5:c.1044C>T | ENSP00000409227.1:p.His348= | |
| ENST00000482318.5:c.*634C>T | ENSP00000477067.1:n.*634C>T | |
| NM_001001890.2:c.963C>T | NP_001001890.1:p.His321= | |
| NM_001754.4:c.1044C>T , LRG_482t1:c.1044C>T | NP_001745.2:p.His348= | |
| XM_005261068.3:c.1008C>T | XP_005261125.1:p.His336= | |
| XM_005261069.3:c.852C>T | XP_005261126.1:p.His284= | |
| XM_011529766.1:c.1044C>T | XP_011528068.1:p.His348= | |
| XM_011529767.1:c.1005C>T | XP_011528069.1:p.His335= | |
| XM_011529768.1:c.813C>T | XP_011528070.1:p.His271= | |
| XM_005261069.4:c.852C>T | XP_005261126.1:p.His284= | |
| XM_011529766.2:c.1044C>T | XP_011528068.1:p.His348= | |
| XM_011529767.2:c.1005C>T | XP_011528069.1:p.His335= | |
| XM_011529768.2:c.813C>T | XP_011528070.1:p.His271= | |
| XM_017028487.1:c.891C>T | XP_016883976.1:p.His297= | |
| NM_001001890.3:c.963C>T | NP_001001890.1:p.His321= | |
| NM_001754.5:c.1044C>T MANE Select | NP_001745.2:p.His348= |