ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003422 (NFE)
Genomes Max Group AF
0.00002847 (NFE)
Exomes Max Group AF
0.00003257 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75953483G>A , CM000679.2:g.75953483G>A | GRCh38 |
| NC_000017.10:g.73949564G>A , CM000679.1:g.73949564G>A | GRCh37 |
| NC_000017.9:g.71461159G>A | NCBI36 |
| NG_008190.1:g.30881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301608.9:c.912C>T | ENSP00000301608.4:p.Ser304= | |
| ENST00000293217.10:c.912C>T MANE Select | ENSP00000293217.4:p.Ser304= | |
| ENST00000293217.9:c.912C>T | ENSP00000293217.4:p.Ser304= | |
| ENST00000301608.8:c.912C>T | ENSP00000301608.4:p.Ser304= | |
| ENST00000572047.5:c.1086C>T | ENSP00000459936.1:n.1086C>T | |
| ENST00000573078.5:c.*401C>T | ENSP00000458325.1:n.*401C>T | |
| ENST00000589744.1:n.162C>T | ||
| NM_001185039.1:c.798C>T | NP_001171968.1:p.Ser266= | |
| NM_004035.6:c.912C>T | NP_004026.2:p.Ser304= | |
| NM_007292.5:c.912C>T | NP_009223.2:p.Ser304= | |
| XM_011524868.1:c.708C>T | XP_011523170.1:p.Ser236= | |
| XM_011524869.1:c.504C>T | XP_011523171.1:p.Ser168= | |
| XM_011524868.3:c.708C>T | XP_011523170.1:p.Ser236= | |
| XM_011524869.3:c.504C>T | XP_011523171.1:p.Ser168= | |
| NM_004035.7:c.912C>T MANE Select | NP_004026.2:p.Ser304= | |
| NM_001185039.2:c.798C>T | NP_001171968.1:p.Ser266= | |
| NM_007292.6:c.912C>T | NP_009223.2:p.Ser304= |