gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00213704 (AFR)
Genomes Max Group AF
0.00199062 (AFR)
Exomes Max Group AF
0.0020628 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611042C>G , CM000668.2:g.1611042C>G | GRCh38 |
| NC_000006.11:g.1611277C>G , CM000668.1:g.1611277C>G | GRCh37 |
| NC_000006.10:g.1556276C>G | NCBI36 |
| NG_009368.1:g.5597C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.597C>G MANE Select | ENSP00000493906.1:p.Arg199= | |
| ENST00000380874.3:c.597C>G | ENSP00000370256.2:p.Arg199= | |
| NM_001453.2:c.597C>G | NP_001444.2:p.Arg199= | |
| NM_001453.3:c.597C>G MANE Select | NP_001444.2:p.Arg199= |