gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00031005 (AFR)
Genomes Max Group AF
0.00020407 (AFR)
Exomes Max Group AF
0.00034725 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99799313C>G , CM000672.2:g.99799313C>G | GRCh38 |
| NC_000010.10:g.101559070C>G , CM000672.1:g.101559070C>G | GRCh37 |
| NC_000010.9:g.101549060C>G | NCBI36 |
| NG_011798.1:g.21608C>G | |
| NG_011798.2:g.21716C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.974C>G MANE Select | ENSP00000497274.1:p.Ser325Ter | |
| ENST00000370449.8:c.974C>G | ENSP00000359478.4:p.Ser325Ter | |
| NM_000392.4:c.974C>G | NP_000383.1:p.Ser325Ter | |
| XM_006717630.2:c.278C>G | XP_006717693.1:p.Ser93Ter | |
| XM_006717631.2:c.974C>G | XP_006717694.1:p.Ser325Ter | |
| XM_011539291.1:c.974C>G | XP_011537593.1:p.Ser325Ter | |
| XR_945604.1:n.1163C>G | ||
| XR_945605.1:n.1165C>G | ||
| NM_000392.5:c.974C>G MANE Select | NP_000383.2:p.Ser325Ter | |
| XM_006717630.3:c.278C>G | XP_006717693.1:p.Ser93Ter | |
| XM_006717631.4:c.974C>G | XP_006717694.1:p.Ser325Ter | |
| XM_011539291.3:c.974C>G | XP_011537593.1:p.Ser325Ter | |
| XM_017015675.2:c.974C>G | XP_016871164.1:p.Ser325Ter | |
| XR_945604.3:n.1217C>G | ||
| XR_945605.3:n.1217C>G |