gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00172653 (NFE)
Genomes Max Group AF
0.00103504 (NFE)
Exomes Max Group AF
0.00175749 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21857157G>A , CM000663.2:g.21857157G>A | GRCh38 |
| NC_000001.10:g.22183650G>A , CM000663.1:g.22183650G>A | GRCh37 |
| NC_000001.9:g.22056237G>A | NCBI36 |
| NG_016740.1:g.85101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.5433C>T MANE Select | ENSP00000363827.3:p.Asn1811= | |
| ENST00000374695.7:c.5433C>T | ENSP00000363827.3:p.Asn1811= | |
| NM_001291860.1:c.5436C>T | NP_001278789.1:p.Asn1812= | |
| NM_005529.6:c.5433C>T | NP_005520.4:p.Asn1811= | |
| XM_006710594.2:c.5979C>T | XP_006710657.1:p.Asn1993= | |
| XM_006710595.2:c.5931C>T | XP_006710658.1:p.Asn1977= | |
| XM_006710596.2:c.5910C>T | XP_006710659.1:p.Asn1970= | |
| XM_006710597.2:c.5433C>T | XP_006710660.1:p.Asn1811= | |
| XM_011541317.1:c.5982C>T | XP_011539619.1:p.Asn1994= | |
| XM_011541318.1:c.5982C>T | XP_011539620.1:p.Asn1994= | |
| XM_011541319.1:c.5982C>T | XP_011539621.1:p.Asn1994= | |
| XM_011541320.1:c.5982C>T | XP_011539622.1:p.Asn1994= | |
| XM_011541321.1:c.5487C>T | XP_011539623.1:p.Asn1829= | |
| XM_011541322.1:c.5982C>T | XP_011539624.1:p.Asn1994= | |
| XM_011541318.2:c.5982C>T | XP_011539620.1:p.Asn1994= | |
| XM_017001120.1:c.5628C>T | XP_016856609.1:p.Asn1876= | |
| XM_017001121.1:c.5577C>T | XP_016856610.1:p.Asn1859= | |
| XM_017001122.1:c.5574C>T | XP_016856611.1:p.Asn1858= | |
| NM_005529.7:c.5433C>T MANE Select | NP_005520.4:p.Asn1811= | |
| NM_001291860.2:c.5436C>T | NP_001278789.1:p.Asn1812= |