COSMIC:
COSM4419727 (not active)
Revel Score:
ENST00000296754
0.069
ENST00000443439 (MANE Select)
0.069
ENST00000414384
0.069
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.72432649 (NFE)
Genomes Max Group AF
0.71767965 (NFE)
Exomes Max Group AF
0.72444554 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96783148G>C , CM000667.2:g.96783148G>C | GRCh38 |
| NC_000005.9:g.96118852G>C , CM000667.1:g.96118852G>C | GRCh37 |
| NC_000005.8:g.96144608G>C | NCBI36 |
| NG_027839.1:g.35997C>G | |
| NG_027839.2:g.157836C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.2188C>G MANE Select | ENSP00000406304.2:p.Gln730Glu | |
| ENST00000296754.7:c.2188C>G | ENSP00000296754.3:p.Gln730Glu | |
| ENST00000443439.6:c.2188C>G | ENSP00000406304.2:p.Gln730Glu | |
| ENST00000514604.5:n.612C>G | ||
| NM_001040458.1:c.2188C>G | NP_001035548.1:p.Gln730Glu | |
| NM_001198541.1:c.2188C>G | NP_001185470.1:p.Gln730Glu | |
| NM_016442.3:c.2188C>G | NP_057526.3:p.Gln730Glu | |
| XM_005272015.3:c.2188C>G | XP_005272072.1:p.Gln730Glu | |
| XM_005272016.3:c.2188C>G | XP_005272073.1:p.Gln730Glu | |
| XM_011543480.1:c.2188C>G | XP_011541782.1:p.Gln730Glu | |
| XM_011543481.1:c.2188C>G | XP_011541783.1:p.Gln730Glu | |
| XM_011543482.1:c.2188C>G | XP_011541784.1:p.Gln730Glu | |
| XM_011543483.1:c.2188C>G | XP_011541785.1:p.Gln730Glu | |
| XM_011543484.1:c.2188C>G | XP_011541786.1:p.Gln730Glu | |
| XM_011543485.1:c.2188C>G | XP_011541787.1:p.Gln730Glu | |
| XM_011543486.1:c.2188C>G | XP_011541788.1:p.Gln730Glu | |
| XM_011543487.1:c.2188C>G | XP_011541789.1:p.Gln730Glu | |
| XR_427744.2:n.89+1273G>C | ||
| XR_948592.1:n.89+1273G>C | ||
| XR_948593.1:n.398-1858G>C | ||
| XR_948594.1:n.71+1255G>C | ||
| XR_948595.1:n.398-1858G>C | ||
| NM_001040458.2:c.2188C>G | NP_001035548.1:p.Gln730Glu | |
| NM_001198541.2:c.2188C>G | NP_001185470.1:p.Gln730Glu | |
| NM_001349244.1:c.2188C>G | NP_001336173.1:p.Gln730Glu | |
| NM_016442.4:c.2188C>G | NP_057526.3:p.Gln730Glu | |
| XM_005272015.5:c.2188C>G | XP_005272072.1:p.Gln730Glu | |
| XM_005272016.4:c.2188C>G | XP_005272073.1:p.Gln730Glu | |
| XM_011543480.2:c.2188C>G | XP_011541782.1:p.Gln730Glu | |
| XM_011543481.2:c.2188C>G | XP_011541783.1:p.Gln730Glu | |
| XM_011543484.2:c.2188C>G | XP_011541786.1:p.Gln730Glu | |
| XM_011543485.2:c.2188C>G | XP_011541787.1:p.Gln730Glu | |
| XM_011543486.3:c.2188C>G | XP_011541788.1:p.Gln730Glu | |
| XM_017009581.1:c.2188C>G | XP_016865070.1:p.Gln730Glu | |
| XM_017009583.2:c.1093C>G | XP_016865072.1:p.Gln365Glu | |
| XM_024446113.1:c.2188C>G | XP_024301881.1:p.Gln730Glu | |
| XR_001742119.2:n.2326C>G | ||
| XR_001742445.1:n.2962+1273G>C | ||
| XR_001742446.1:n.725+1273G>C | ||
| NM_001040458.3:c.2188C>G MANE Select | NP_001035548.1:p.Gln730Glu | |
| NM_001198541.3:c.2188C>G | NP_001185470.1:p.Gln730Glu | |
| NM_001349244.2:c.2188C>G | NP_001336173.1:p.Gln730Glu | |
| NM_016442.5:c.2188C>G | NP_057526.3:p.Gln730Glu |