gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1596426 (NFE)
Genomes Max Group AF
0.15591997 (NFE)
Exomes Max Group AF
0.15973654 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101051471G>A , CM000673.2:g.101051471G>A | GRCh38 |
| NC_000011.9:g.100922202G>A , CM000673.1:g.100922202G>A | GRCh37 |
| NC_000011.8:g.100427412G>A | NCBI36 |
| NG_016475.1:g.83343C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325455.10:c.2310C>T MANE Select | ENSP00000325120.5:p.His770= | |
| ENST00000263463.9:c.2004C>T | ENSP00000263463.5:p.His668= | |
| ENST00000325455.9:c.2310C>T | ENSP00000325120.5:p.His770= | |
| ENST00000526300.5:c.2004C>T | ENSP00000436803.1:p.His668= | |
| ENST00000528960.5:c.2193C>T | ENSP00000432914.1:p.His731= | |
| ENST00000533207.5:n.1677C>T | ||
| ENST00000534013.5:c.528C>T | ENSP00000436561.1:p.His176= | |
| ENST00000534780.5:c.2310C>T | ENSP00000432352.1:p.His770= | |
| ENST00000617858.4:c.2004C>T | ENSP00000481227.1:p.His668= | |
| ENST00000619228.2:c.2193C>T | ENSP00000482698.1:p.His731= | |
| NM_000926.4:c.2310C>T MANE Select | NP_000917.3:p.His770= | |
| NM_001202474.3:c.1818C>T | NP_001189403.1:p.His606= | |
| NM_001271161.2:c.1512C>T | NP_001258090.1:p.His504= | |
| NM_001271162.1:c.528C>T | NP_001258091.1:p.His176= | |
| NR_073141.2:n.2303C>T | ||
| NR_073142.2:n.2186C>T | ||
| NR_073143.2:n.1997C>T | ||
| XM_006718858.2:c.2310C>T | XP_006718921.1:p.His770= | |
| XM_006718858.3:c.2310C>T | XP_006718921.1:p.His770= | |
| NM_001271162.2:c.528C>T | NP_001258091.1:p.His176= | |
| NR_073141.3:n.2317C>T | ||
| NR_073142.3:n.2200C>T | ||
| NR_073143.3:n.2011C>T |