gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81665616 (NFE)
Genomes Max Group AF
0.81302525 (NFE)
Exomes Max Group AF
0.82191808 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74994651T>C , CM000673.2:g.74994651T>C | GRCh38 |
| NC_000011.9:g.74705696T>C , CM000673.1:g.74705696T>C | GRCh37 |
| NC_000011.8:g.74383344T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294064.9:c.237T>C MANE Select | ENSP00000294064.4:p.Ser79= | |
| ENST00000294064.8:c.237T>C | ENSP00000294064.4:p.Ser79= | |
| ENST00000529024.1:c.94+5497T>C | ENSP00000434474.1:n.94+5497T>C | |
| ENST00000531509.5:c.237T>C | ENSP00000432097.1:p.Ser79= | |
| ENST00000531619.1:c.237T>C | ENSP00000436118.1:p.Ser79= | |
| ENST00000532963.1:c.94+5497T>C | ENSP00000434907.1:n.94+5497T>C | |
| ENST00000534628.1:c.237T>C | ENSP00000434754.1:p.Ser79= | |
| NM_006656.5:c.237T>C | NP_006647.3:p.Ser79= | |
| NM_001367860.1:c.237T>C | NP_001354789.1:p.Ser79= | |
| NM_001367861.1:c.237T>C | NP_001354790.1:p.Ser79= | |
| NM_001367862.1:c.237T>C | NP_001354791.1:p.Ser79= | |
| NM_001367863.1:c.94+5497T>C | NP_001354792.1:n.94+5497T>C | |
| NM_001367864.1:c.94+5497T>C | NP_001354793.1:n.94+5497T>C | |
| NM_001367865.1:c.237T>C | NP_001354794.1:p.Ser79= | |
| NM_001367866.1:c.237T>C | NP_001354795.1:p.Ser79= | |
| NM_006656.6:c.237T>C MANE Select | NP_006647.3:p.Ser79= |