gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00921085 (EAS)
Genomes Max Group AF
0.00178672 (EAS)
Exomes Max Group AF
0.01005231 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69330986G>A , CM000678.2:g.69330986G>A | GRCh38 |
| NC_000016.9:g.69364889G>A , CM000678.1:g.69364889G>A | GRCh37 |
| NC_000016.8:g.67922390G>A | NCBI36 |
| NG_009013.1:g.13638C>T | |
| NG_033043.1:g.4610C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.1692C>T MANE Select | ENSP00000305459.6:p.Thr564= | |
| ENST00000306875.8:c.1692C>T | ENSP00000305459.4:p.Thr564= | |
| ENST00000562595.5:c.549+4340C>T | ||
| ENST00000562949.1:c.352-1807C>T | ENSP00000457718.1:n.352-1807C>T | |
| NM_032382.4:c.1692C>T | NP_115758.3:p.Thr564= | |
| NM_032382.5:c.1692C>T MANE Select | NP_115758.3:p.Thr564= | |
| NM_001379261.1:c.1833C>T | NP_001366190.1:p.Thr611= | |
| NM_001379262.1:c.1692C>T | NP_001366191.1:p.Thr564= | |
| NM_001379263.1:c.1731C>T | NP_001366192.1:p.Thr577= | |
| NM_001379264.1:c.1692C>T | NP_001366193.1:p.Thr564= | |
| NM_001379265.1:c.1582+1728C>T | NP_001366194.1:n.1582+1728C>T | |
| NM_001379266.1:c.1414-1807C>T | NP_001366195.1:n.1414-1807C>T |