gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00845108 (NFE)
Genomes Max Group AF
0.00729167 (NFE)
Exomes Max Group AF
0.00849227 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10629648A>G , CM000663.2:g.10629648A>G | GRCh38 |
| NC_000001.10:g.10689705A>G , CM000663.1:g.10689705A>G | GRCh37 |
| NC_000001.9:g.10612292A>G | NCBI36 |
| NG_008340.1:g.159703A>G | |
| NG_008340.2:g.159703A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.795A>G MANE Select | ENSP00000349016.4:p.Ser265= | |
| ENST00000356607.8:c.795A>G | ENSP00000349016.4:p.Ser265= | |
| NM_004565.2:c.795A>G | NP_004556.1:p.Ser265= | |
| XM_005263470.3:c.603A>G | XP_005263527.1:p.Ser201= | |
| XM_011541577.1:c.837A>G | XP_011539879.1:p.Ser279= | |
| XM_011541578.1:c.738A>G | XP_011539880.1:p.Ser246= | |
| XM_011541579.1:c.708A>G | XP_011539881.1:p.Ser236= | |
| XM_011541580.1:c.666A>G | XP_011539882.1:p.Ser222= | |
| XM_005263470.5:c.603A>G | XP_005263527.1:p.Ser201= | |
| XM_011541577.2:c.837A>G | XP_011539879.1:p.Ser279= | |
| XM_011541578.2:c.738A>G | XP_011539880.1:p.Ser246= | |
| XM_011541579.3:c.708A>G | XP_011539881.1:p.Ser236= | |
| XM_024447651.1:c.603A>G | XP_024303419.1:p.Ser201= | |
| NM_004565.3:c.795A>G MANE Select | NP_004556.1:p.Ser265= |