gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00024629 (SAS)
Genomes Max Group AF
0.00007287 (SAS)
Exomes Max Group AF
0.00024026 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21878207G>A , CM000663.2:g.21878207G>A | GRCh38 |
| NC_000001.10:g.22204700G>A , CM000663.1:g.22204700G>A | GRCh37 |
| NC_000001.9:g.22077287G>A | NCBI36 |
| NG_016740.1:g.64051C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.2664C>T MANE Select | ENSP00000363827.3:p.Ser888= | |
| ENST00000374695.7:c.2664C>T | ENSP00000363827.3:p.Ser888= | |
| ENST00000480900.1:n.453C>T | ||
| NM_001291860.1:c.2667C>T | NP_001278789.1:p.Ser889= | |
| NM_005529.6:c.2664C>T | NP_005520.4:p.Ser888= | |
| XM_006710594.2:c.2715C>T | XP_006710657.1:p.Ser905= | |
| XM_006710595.2:c.2667C>T | XP_006710658.1:p.Ser889= | |
| XM_006710596.2:c.2718C>T | XP_006710659.1:p.Ser906= | |
| XM_006710597.2:c.2664C>T | XP_006710660.1:p.Ser888= | |
| XM_011541317.1:c.2718C>T | XP_011539619.1:p.Ser906= | |
| XM_011541318.1:c.2718C>T | XP_011539620.1:p.Ser906= | |
| XM_011541319.1:c.2718C>T | XP_011539621.1:p.Ser906= | |
| XM_011541320.1:c.2718C>T | XP_011539622.1:p.Ser906= | |
| XM_011541321.1:c.2718C>T | XP_011539623.1:p.Ser906= | |
| XM_011541322.1:c.2718C>T | XP_011539624.1:p.Ser906= | |
| XM_011541318.2:c.2718C>T | XP_011539620.1:p.Ser906= | |
| XM_017001120.1:c.2859C>T | XP_016856609.1:p.Ser953= | |
| XM_017001121.1:c.2808C>T | XP_016856610.1:p.Ser936= | |
| XM_017001122.1:c.2805C>T | XP_016856611.1:p.Ser935= | |
| NM_005529.7:c.2664C>T MANE Select | NP_005520.4:p.Ser888= | |
| NM_001291860.2:c.2667C>T | NP_001278789.1:p.Ser889= |