gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00037012 (NFE)
Genomes Max Group AF
0.00026011 (AMR)
Exomes Max Group AF
0.00038027 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72021176C>T , CM000678.2:g.72021176C>T | GRCh38 |
| NC_000016.9:g.72055075C>T , CM000678.1:g.72055075C>T | GRCh37 |
| NC_000016.8:g.70612576C>T | NCBI36 |
| NG_016271.1:g.17433C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.570C>T MANE Select | ENSP00000219240.4:p.Ala190= | |
| ENST00000219240.8:c.570C>T | ENSP00000219240.4:p.Ala190= | |
| ENST00000571392.1:n.1485-1989C>T | ||
| ENST00000572003.5:n.487C>T | ||
| ENST00000572887.5:c.570C>T | ENSP00000461848.1:p.Ala190= | |
| ENST00000573843.1:n.533C>T | ||
| ENST00000573922.5:n.314-1989C>T | ||
| ENST00000574309.5:c.514-2969C>T | ||
| NM_001361.4:c.570C>T | NP_001352.2:p.Ala190= | |
| XM_005255827.2:c.486C>T | XP_005255884.1:p.Ala162= | |
| XM_005255828.3:c.162C>T | XP_005255885.1:p.Ala54= | |
| XM_005255829.2:c.141C>T | XP_005255886.1:p.Ala47= | |
| XM_005255827.4:c.486C>T | XP_005255884.1:p.Ala162= | |
| XM_005255829.4:c.141C>T | XP_005255886.1:p.Ala47= | |
| XM_017022990.2:c.243C>T | XP_016878479.1:p.Ala81= | |
| NM_001361.5:c.570C>T MANE Select | NP_001352.2:p.Ala190= |