gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000443 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179833033C>T , CM000667.2:g.179833033C>T | GRCh38 |
| NC_000005.9:g.179260033C>T , CM000667.1:g.179260033C>T | GRCh37 |
| NC_000005.8:g.179192639C>T | NCBI36 |
| NG_011342.1:g.31646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.756C>T MANE Select | ENSP00000374455.4:p.Gly252= | |
| ENST00000360718.5:c.504C>T | ENSP00000353944.5:p.Gly168= | |
| ENST00000389805.8:c.756C>T | ENSP00000374455.4:p.Gly252= | |
| ENST00000466342.1:n.455C>T | ||
| ENST00000510187.5:c.756C>T | ENSP00000424477.1:p.Gly252= | |
| NM_001142298.1:c.504C>T | NP_001135770.1:p.Gly168= | |
| NM_001142299.1:c.504C>T | NP_001135771.1:p.Gly168= | |
| NM_003900.4:c.756C>T | NP_003891.1:p.Gly252= | |
| XM_017010010.1:c.504C>T | XP_016865499.1:p.Gly168= | |
| NM_003900.5:c.756C>T MANE Select | NP_003891.1:p.Gly252= | |
| NM_001142298.2:c.504C>T | NP_001135770.1:p.Gly168= | |
| NM_001142299.2:c.504C>T | NP_001135771.1:p.Gly168= |