gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00246259 (AFR)
Genomes Max Group AF
0.002645 (AFR)
Exomes Max Group AF
0.00196692 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67611113C>T , CM000673.2:g.67611113C>T | GRCh38 |
| NC_000011.9:g.67378584C>T , CM000673.1:g.67378584C>T | GRCh37 |
| NC_000011.8:g.67135160C>T | NCBI36 |
| NG_013353.1:g.9262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322776.11:c.819C>T MANE Select | ENSP00000322450.6:p.Thr273= | |
| ENST00000647561.1:c.819C>T | ENSP00000497587.1:p.Thr273= | |
| ENST00000322776.10:c.819C>T | ENSP00000322450.6:p.Thr273= | |
| ENST00000415352.6:c.798C>T | ENSP00000395368.2:p.Thr266= | |
| ENST00000526169.1:n.561C>T | ||
| ENST00000526770.5:n.1102C>T | ||
| ENST00000527355.5:c.108C>T | ENSP00000432637.1:p.Thr36= | |
| ENST00000529927.5:c.792C>T | ENSP00000436766.1:p.Thr264= | |
| ENST00000532303.5:c.516C>T | ENSP00000432015.1:p.Thr172= | |
| ENST00000533919.5:c.297C>T | ENSP00000435199.1:p.Thr99= | |
| NM_001166102.1:c.792C>T | NP_001159574.1:p.Thr264= | |
| NM_007103.3:c.819C>T | NP_009034.2:p.Thr273= | |
| NM_001166102.2:c.792C>T | NP_001159574.1:p.Thr264= | |
| NM_007103.4:c.819C>T MANE Select | NP_009034.2:p.Thr273= |