gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0013952 (EAS)
Genomes Max Group AF
0.00106142 (EAS)
Exomes Max Group AF
0.00124001 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12739592C>G , CM000686.2:g.12739592C>G | GRCh38 |
| NC_000024.9:g.14851526C>G , CM000686.1:g.14851526C>G | GRCh37 |
| NC_000024.8:g.13360920C>G | NCBI36 |
| NG_008311.1:g.43367C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.1385C>G | ENSP00000498372.1:p.Ser462Cys | |
| ENST00000338981.7:c.1385C>G MANE Select | ENSP00000342812.3:p.Ser462Cys | |
| ENST00000426564.6:n.1397C>G | ||
| NM_004654.3:c.1385C>G | NP_004645.2:p.Ser462Cys | |
| XM_011531469.1:c.1385C>G | XP_011529771.1:p.Ser462Cys | |
| XM_011531470.1:c.1151C>G | XP_011529772.1:p.Ser384Cys | |
| XM_017030078.2:c.1385C>G | XP_016885567.1:p.Ser462Cys | |
| NM_004654.4:c.1385C>G MANE Select | NP_004645.2:p.Ser462Cys |