gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00118223 (AFR)
Genomes Max Group AF
0.00108636 (AFR)
Exomes Max Group AF
0.00111048 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101770036G>A , CM000674.2:g.101770036G>A | GRCh38 |
| NC_000012.11:g.102163814G>A , CM000674.1:g.102163814G>A | GRCh37 |
| NC_000012.10:g.100687945G>A | NCBI36 |
| NG_021243.1:g.65832C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1269C>T MANE Select | ENSP00000299314.7:p.His423= | |
| ENST00000299314.11:c.1269C>T | ENSP00000299314.7:p.His423= | |
| ENST00000549940.5:c.1269C>T | ENSP00000449150.1:p.His423= | |
| NM_024312.4:c.1269C>T | NP_077288.2:p.His423= | |
| XM_006719593.2:c.1269C>T | XP_006719656.1:p.His423= | |
| XM_011538731.1:c.1188C>T | XP_011537033.1:p.His396= | |
| XM_006719593.3:c.1269C>T | XP_006719656.1:p.His423= | |
| XM_011538731.2:c.1188C>T | XP_011537033.1:p.His396= | |
| XM_017019961.1:c.1053C>T | XP_016875450.1:p.His351= | |
| XM_017019962.2:c.42C>T | XP_016875451.1:p.His14= | |
| NM_024312.5:c.1269C>T MANE Select | NP_077288.2:p.His423= |