gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00001583 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50186824G>A , CM000679.2:g.50186824G>A | GRCh38 |
| NC_000017.10:g.48264185G>A , CM000679.1:g.48264185G>A | GRCh37 |
| NC_000017.9:g.45619184G>A | NCBI36 |
| NG_007400.1:g.19816C>T , LRG_1:g.19816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.3630C>T MANE Select | ENSP00000225964.6:p.His1210= | |
| ENST00000225964.9:c.3630C>T | ENSP00000225964.5:p.His1210= | |
| ENST00000510710.3:n.299C>T | ||
| NM_000088.3:c.3630C>T , LRG_1t1:c.3630C>T | NP_000079.2:p.His1210= | |
| XM_005257058.3:c.3360C>T | XP_005257115.2:p.His1120= | |
| XM_005257059.3:c.2712C>T | XP_005257116.2:p.His904= | |
| XM_011524341.1:c.3432C>T | XP_011522643.1:p.His1144= | |
| XM_005257058.4:c.3360C>T | XP_005257115.2:p.His1120= | |
| XM_005257059.4:c.2712C>T | XP_005257116.2:p.His904= | |
| NM_000088.4:c.3630C>T MANE Select | NP_000079.2:p.His1210= |