gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011718 (AFR)
Genomes Max Group AF
0.00013049 (AFR)
Exomes Max Group AF
0.00001988 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12721099C>G , CM000674.2:g.12721099C>G | GRCh38 |
| NC_000012.11:g.12874033C>G , CM000674.1:g.12874033C>G | GRCh37 |
| NC_000012.10:g.12765300C>G | NCBI36 |
| NG_016341.1:g.8732C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.*2153C>G | ENSP00000507272.1:n.*2153C>G | |
| ENST00000682620.1:n.1824C>G | ||
| ENST00000684771.1:n.778C>G | ||
| ENST00000228872.9:c.*72C>G MANE Select | ENSP00000228872.4:n.*72C>G | |
| ENST00000228872.8:c.*72C>G | ENSP00000228872.4:n.*72C>G | |
| ENST00000396340.1:c.510C>G | ENSP00000379629.1:p.Tyr170Ter | |
| ENST00000442489.1:c.387C>G | ENSP00000407597.1:n.387C>G | |
| ENST00000477087.1:n.348C>G | ||
| NM_004064.4:c.*72C>G | NP_004055.1:n.*72C>G | |
| NM_004064.5:c.*72C>G MANE Select | NP_004055.1:n.*72C>G |