gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00127914 (NFE)
Genomes Max Group AF
0.0013305 (NFE)
Exomes Max Group AF
0.00126283 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21864981C>T , CM000663.2:g.21864981C>T | GRCh38 |
| NC_000001.10:g.22191474C>T , CM000663.1:g.22191474C>T | GRCh37 |
| NC_000001.9:g.22064061C>T | NCBI36 |
| NG_016740.1:g.77277G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4488G>A MANE Select | ENSP00000363827.3:p.Thr1496= | |
| ENST00000374695.7:c.4488G>A | ENSP00000363827.3:p.Thr1496= | |
| NM_001291860.1:c.4491G>A | NP_001278789.1:p.Thr1497= | |
| NM_005529.6:c.4488G>A | NP_005520.4:p.Thr1496= | |
| XM_006710594.2:c.5034G>A | XP_006710657.1:p.Thr1678= | |
| XM_006710595.2:c.4986G>A | XP_006710658.1:p.Thr1662= | |
| XM_006710596.2:c.4965G>A | XP_006710659.1:p.Thr1655= | |
| XM_006710597.2:c.4488G>A | XP_006710660.1:p.Thr1496= | |
| XM_011541317.1:c.5037G>A | XP_011539619.1:p.Thr1679= | |
| XM_011541318.1:c.5037G>A | XP_011539620.1:p.Thr1679= | |
| XM_011541319.1:c.5037G>A | XP_011539621.1:p.Thr1679= | |
| XM_011541320.1:c.5037G>A | XP_011539622.1:p.Thr1679= | |
| XM_011541321.1:c.4542G>A | XP_011539623.1:p.Thr1514= | |
| XM_011541322.1:c.5037G>A | XP_011539624.1:p.Thr1679= | |
| XM_011541318.2:c.5037G>A | XP_011539620.1:p.Thr1679= | |
| XM_017001120.1:c.4683G>A | XP_016856609.1:p.Thr1561= | |
| XM_017001121.1:c.4632G>A | XP_016856610.1:p.Thr1544= | |
| XM_017001122.1:c.4629G>A | XP_016856611.1:p.Thr1543= | |
| NM_005529.7:c.4488G>A MANE Select | NP_005520.4:p.Thr1496= | |
| NM_001291860.2:c.4491G>A | NP_001278789.1:p.Thr1497= |