gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00047463 (NFE)
Genomes Max Group AF
0.00055972 (NFE)
Exomes Max Group AF
0.00046112 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21864193C>T , CM000663.2:g.21864193C>T | GRCh38 |
| NC_000001.10:g.22190686C>T , CM000663.1:g.22190686C>T | GRCh37 |
| NC_000001.9:g.22063273C>T | NCBI36 |
| NG_016740.1:g.78065G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4647G>A MANE Select | ENSP00000363827.3:p.Thr1549= | |
| ENST00000374695.7:c.4647G>A | ENSP00000363827.3:p.Thr1549= | |
| NM_001291860.1:c.4650G>A | NP_001278789.1:p.Thr1550= | |
| NM_005529.6:c.4647G>A | NP_005520.4:p.Thr1549= | |
| XM_006710594.2:c.5193G>A | XP_006710657.1:p.Thr1731= | |
| XM_006710595.2:c.5145G>A | XP_006710658.1:p.Thr1715= | |
| XM_006710596.2:c.5124G>A | XP_006710659.1:p.Thr1708= | |
| XM_006710597.2:c.4647G>A | XP_006710660.1:p.Thr1549= | |
| XM_011541317.1:c.5196G>A | XP_011539619.1:p.Thr1732= | |
| XM_011541318.1:c.5196G>A | XP_011539620.1:p.Thr1732= | |
| XM_011541319.1:c.5196G>A | XP_011539621.1:p.Thr1732= | |
| XM_011541320.1:c.5196G>A | XP_011539622.1:p.Thr1732= | |
| XM_011541321.1:c.4701G>A | XP_011539623.1:p.Thr1567= | |
| XM_011541322.1:c.5196G>A | XP_011539624.1:p.Thr1732= | |
| XM_011541318.2:c.5196G>A | XP_011539620.1:p.Thr1732= | |
| XM_017001120.1:c.4842G>A | XP_016856609.1:p.Thr1614= | |
| XM_017001121.1:c.4791G>A | XP_016856610.1:p.Thr1597= | |
| XM_017001122.1:c.4788G>A | XP_016856611.1:p.Thr1596= | |
| NM_005529.7:c.4647G>A MANE Select | NP_005520.4:p.Thr1549= | |
| NM_001291860.2:c.4650G>A | NP_001278789.1:p.Thr1550= |