ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002474 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00002285 (NFE)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19771439C>G , CM000663.2:g.19771439C>G | GRCh38 |
| NC_000001.10:g.20097932C>G , CM000663.1:g.20097932C>G | GRCh37 |
| NC_000001.9:g.19970519C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294543.11:c.223G>C MANE Select | ENSP00000294543.6:p.Glu75Gln | |
| ENST00000294543.10:c.223G>C | ENSP00000294543.6:p.Glu75Gln | |
| ENST00000375127.5:c.223G>C | ENSP00000364269.1:p.Glu75Gln | |
| ENST00000488449.1:n.554G>C | ||
| ENST00000489135.5:n.229G>C | ||
| ENST00000496528.5:n.414G>C | ||
| NM_181719.4:c.223G>C | NP_859070.3:p.Glu75Gln | |
| XM_005245822.3:c.223G>C | XP_005245879.1:p.Glu75Gln | |
| XM_005245824.3:c.223G>C | XP_005245881.1:p.Glu75Gln | |
| XM_005245825.3:c.223G>C | XP_005245882.1:p.Glu75Gln | |
| XM_005245827.3:c.223G>C | XP_005245884.1:p.Glu75Gln | |
| XM_006710551.2:c.223G>C | XP_006710614.1:p.Glu75Gln | |
| XM_011541179.1:c.523G>C | XP_011539481.1:p.Glu175Gln | |
| XM_011541180.1:c.523G>C | XP_011539482.1:p.Glu175Gln | |
| XM_011541181.1:c.523G>C | XP_011539483.1:p.Glu175Gln | |
| XM_011541182.1:c.523G>C | XP_011539484.1:p.Glu175Gln | |
| XM_011541183.1:c.400G>C | XP_011539485.1:p.Glu134Gln | |
| XM_011541184.1:c.223G>C | XP_011539486.1:p.Glu75Gln | |
| XM_011541185.1:c.223G>C | XP_011539487.1:p.Glu75Gln | |
| XM_011541186.1:c.223G>C | XP_011539488.1:p.Glu75Gln | |
| NM_001349112.1:c.223G>C | NP_001336041.1:p.Glu75Gln | |
| NM_001349113.1:c.223G>C | NP_001336042.1:p.Glu75Gln | |
| NM_001349114.1:c.223G>C | NP_001336043.1:p.Glu75Gln | |
| NM_001349115.1:c.223G>C | NP_001336044.1:p.Glu75Gln | |
| NM_181719.5:c.223G>C | NP_859070.3:p.Glu75Gln | |
| XM_005245822.4:c.223G>C | XP_005245879.1:p.Glu75Gln | |
| XM_011541179.2:c.523G>C | XP_011539481.1:p.Glu175Gln | |
| XM_011541180.2:c.523G>C | XP_011539482.1:p.Glu175Gln | |
| XM_011541185.3:c.223G>C | XP_011539487.1:p.Glu75Gln | |
| XM_011541186.2:c.223G>C | XP_011539488.1:p.Glu75Gln | |
| XM_017000913.2:c.223G>C | XP_016856402.1:p.Glu75Gln | |
| XM_017000914.1:c.523G>C | XP_016856403.1:p.Glu175Gln | |
| XM_017000915.1:c.523G>C | XP_016856404.1:p.Glu175Gln | |
| XM_017000916.1:c.415G>C | XP_016856405.1:p.Glu139Gln | |
| XM_017000917.1:c.400G>C | XP_016856406.1:p.Glu134Gln | |
| XM_017000922.1:c.55+9141G>C | XP_016856411.1:n.55+9141G>C | |
| NM_001349112.2:c.223G>C | NP_001336041.1:p.Glu75Gln | |
| NM_001349113.2:c.223G>C | NP_001336042.1:p.Glu75Gln | |
| NM_001349114.2:c.223G>C | NP_001336043.1:p.Glu75Gln | |
| NM_181719.6:c.223G>C | NP_859070.3:p.Glu75Gln | |
| NM_001349112.3:c.223G>C | NP_001336041.1:p.Glu75Gln | |
| NM_001349113.3:c.223G>C | NP_001336042.1:p.Glu75Gln | |
| NM_001349114.3:c.223G>C | NP_001336043.1:p.Glu75Gln | |
| NM_181719.7:c.223G>C MANE Select | NP_859070.3:p.Glu75Gln |