gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010062 (SAS)
Genomes Max Group AF
0.00006835 (EAS)
Exomes Max Group AF
0.00010713 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122254246C>T , CM000665.2:g.122254246C>T | GRCh38 |
| NC_000003.11:g.121973093C>T , CM000665.1:g.121973093C>T | GRCh37 |
| NC_000003.10:g.123455783C>T | NCBI36 |
| NG_009058.1:g.75564C>T | |
| NG_009058.2:g.75579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.57C>T | ENSP00000418685.2:p.Ala19= | |
| ENST00000498619.4:c.57C>T | ENSP00000420194.1:p.Ala19= | |
| ENST00000638421.1:c.57C>T | ENSP00000492190.1:p.Ala19= | |
| ENST00000639785.2:c.57C>T MANE Select | ENSP00000491584.2:p.Ala19= | |
| ENST00000490131.5:c.57C>T | ENSP00000418685.1:p.Ala19= | |
| ENST00000498619.2:c.57C>T | ENSP00000420194.1:p.Ala19= | |
| NM_000388.3:c.57C>T | NP_000379.2:p.Ala19= | |
| NM_001178065.1:c.57C>T | NP_001171536.1:p.Ala19= | |
| XM_005247836.2:c.57C>T | XP_005247893.1:p.Ala19= | |
| XM_006713789.2:c.57C>T | XP_006713852.1:p.Ala19= | |
| XM_011513237.1:c.57C>T | XP_011511539.1:p.Ala19= | |
| XM_011513238.1:c.57C>T | XP_011511540.1:p.Ala19= | |
| XM_006713789.3:c.57C>T | XP_006713852.1:p.Ala19= | |
| XM_017007324.1:c.57C>T | XP_016862813.1:p.Ala19= | |
| XM_017007325.1:c.57C>T | XP_016862814.1:p.Ala19= | |
| NM_000388.4:c.57C>T MANE Select | NP_000379.3:p.Ala19= | |
| NM_001178065.2:c.57C>T | NP_001171536.2:p.Ala19= |