COSMIC:
COSM5001454 (not active)
Revel Score:
ENST00000243189 (MANE Select)
0.088
ENST00000417642
0.088
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.33604155 (MID)
Genomes Max Group AF
0.25751053 (NFE)
Exomes Max Group AF
0.33427108 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25243590T>C , CM000663.2:g.25243590T>C | GRCh38 |
| NC_000001.10:g.25570081T>C , CM000663.1:g.25570081T>C | GRCh37 |
| NC_000001.9:g.25442668T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243189.12:c.716A>G MANE Select | ENSP00000243189.7:p.Glu239Gly | |
| ENST00000243189.11:c.716A>G | ENSP00000243189.7:p.Glu239Gly | |
| ENST00000473314.6:c.*671A>G | ENSP00000457582.1:n.*671A>G | |
| ENST00000475766.2:n.267A>G | ||
| ENST00000498238.1:n.2444A>G | ||
| ENST00000564223.5:n.65A>G | ||
| ENST00000565733.5:c.393A>G | ||
| ENST00000566395.5:c.333A>G | ||
| ENST00000568254.5:c.*626A>G | ENSP00000457195.1:n.*626A>G | |
| ENST00000569495.5:n.516A>G | ||
| ENST00000570063.5:n.1353A>G | ||
| NM_020317.3:c.716A>G | NP_064713.3:p.Glu239Gly | |
| XM_011541797.1:c.716A>G | XP_011540099.1:p.Glu239Gly | |
| XM_011541798.1:c.*79A>G | XP_011540100.1:n.*79A>G | |
| XR_241200.1:n.1629A>G | ||
| XR_241201.1:n.1038A>G | ||
| XR_946709.1:n.2280A>G | ||
| XR_946710.1:n.1962A>G | ||
| XR_946711.1:n.1689A>G | ||
| XR_946712.1:n.1858A>G | ||
| XR_946713.1:n.1584A>G | ||
| NM_001321772.1:c.716A>G | NP_001308701.1:p.Glu239Gly | |
| NM_020317.4:c.716A>G | NP_064713.3:p.Glu239Gly | |
| NR_135143.1:n.2509A>G | ||
| NR_135144.1:n.1584A>G | ||
| NR_135777.1:n.2484A>G | ||
| NR_135778.1:n.1858A>G | ||
| NR_135780.1:n.1962A>G | ||
| NR_135781.1:n.1629A>G | ||
| NR_135782.1:n.1311A>G | ||
| NR_135783.1:n.1038A>G | ||
| NR_135784.1:n.2509A>G | ||
| NR_135785.1:n.1037A>G | ||
| NR_135786.1:n.2509A>G | ||
| NR_135787.1:n.2633A>G | ||
| NR_135788.1:n.2575A>G | ||
| NR_135789.1:n.3513A>G | ||
| XR_946709.2:n.2246A>G | ||
| NM_020317.5:c.716A>G MANE Select | NP_064713.3:p.Glu239Gly | |
| NR_135784.2:n.2444A>G | ||
| NR_135786.2:n.2444A>G | ||
| NM_001321772.2:c.716A>G | NP_001308701.1:p.Glu239Gly | |
| NR_135143.2:n.2444A>G | ||
| NR_135144.2:n.1519A>G | ||
| NR_135777.2:n.2484A>G | ||
| NR_135778.2:n.1793A>G | ||
| NR_135780.2:n.1897A>G | ||
| NR_135781.2:n.1564A>G | ||
| NR_135782.2:n.1246A>G | ||
| NR_135783.2:n.973A>G | ||
| NR_135785.2:n.972A>G | ||
| NR_135787.2:n.2633A>G | ||
| NR_135788.2:n.2575A>G | ||
| NR_135789.2:n.3513A>G |