Revel Score:
ENST00000440977
0.154
ENST00000510276
0.154
ENST00000440605
0.154
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003995 (NFE)
Genomes Max Group AF
0.00002912 (NFE)
Exomes Max Group AF
0.00003778 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177734872C>G , CM000667.2:g.177734872C>G | GRCh38 |
| NC_000005.9:g.177161873C>G , CM000667.1:g.177161873C>G | GRCh37 |
| NC_000005.8:g.177094479C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697116.2:c.495G>C MANE Select | ENSP00000513119.1:p.Glu165Asp | |
| ENST00000360669.11:c.495G>C | ENSP00000353887.6:p.Glu165Asp | |
| ENST00000503845.6:c.*550G>C | ENSP00000424904.1:n.*550G>C | |
| ENST00000614127.5:c.726G>C | ENSP00000481950.1:p.Glu242Asp | |
| ENST00000697103.1:c.582G>C | ENSP00000513109.1:p.Glu194Asp | |
| ENST00000697104.1:c.726G>C | ENSP00000513110.1:p.Glu242Asp | |
| ENST00000697105.1:c.495G>C | ENSP00000513111.1:p.Glu165Asp | |
| ENST00000697106.1:c.519G>C | ENSP00000513112.1:p.Glu173Asp | |
| ENST00000697107.1:n.551+4241G>C | ||
| ENST00000697108.1:c.109-468G>C | ENSP00000513113.1:n.109-468G>C | |
| ENST00000697109.1:c.495G>C | ENSP00000513114.1:p.Glu165Asp | |
| ENST00000697110.1:c.*488G>C | ENSP00000513115.1:n.*488G>C | |
| ENST00000697111.1:n.681G>C | ||
| ENST00000697112.1:c.495G>C | ENSP00000513116.1:p.Glu165Asp | |
| ENST00000697113.1:c.495G>C | ENSP00000513117.1:p.Glu165Asp | |
| ENST00000697115.1:c.495G>C | ENSP00000513118.1:p.Glu165Asp | |
| ENST00000697116.1:c.495G>C | ENSP00000513119.1:p.Glu165Asp | |
| ENST00000697117.1:c.495G>C | ENSP00000513120.1:p.Glu165Asp | |
| ENST00000697118.1:n.843G>C | ||
| ENST00000697119.1:n.811G>C | ||
| ENST00000360669.10:c.495G>C | ENSP00000353887.6:p.Glu165Asp | |
| ENST00000393518.7:c.109-468G>C | ENSP00000377153.4:n.109-468G>C | |
| ENST00000440605.7:c.495G>C | ENSP00000411506.3:p.Glu165Asp | |
| ENST00000505531.5:c.134-2772G>C | ENSP00000421623.1:n.134-2772G>C | |
| ENST00000510276.5:c.495G>C | ENSP00000422174.1:p.Glu165Asp | |
| ENST00000512612.5:n.422G>C | ||
| ENST00000513554.5:c.109-468G>C | ENSP00000426689.1:n.109-468G>C | |
| ENST00000614127.4:c.726G>C | ENSP00000481950.1:p.Glu242Asp | |
| NM_173663.3:c.495G>C | NP_775934.3:p.Glu165Asp | |
| XM_005265889.2:c.726G>C | XP_005265946.1:p.Glu242Asp | |
| XM_006714842.2:c.582G>C | XP_006714905.1:p.Glu194Asp | |
| XM_006714848.2:c.495G>C | XP_006714911.1:p.Glu165Asp | |
| XM_006714849.2:c.495G>C | XP_006714912.1:p.Glu165Asp | |
| XM_011534520.1:c.726G>C | XP_011532822.1:p.Glu242Asp | |
| XM_011534521.1:c.495G>C | XP_011532823.1:p.Glu165Asp | |
| XM_011534522.1:c.495G>C | XP_011532824.1:p.Glu165Asp | |
| XM_011534523.1:c.495G>C | XP_011532825.1:p.Glu165Asp | |
| XM_011534524.1:c.495G>C | XP_011532826.1:p.Glu165Asp | |
| XM_011534525.1:c.462G>C | XP_011532827.1:p.Glu154Asp | |
| XM_011534526.1:c.462G>C | XP_011532828.1:p.Glu154Asp | |
| XM_011534527.1:c.462G>C | XP_011532829.1:p.Glu154Asp | |
| XM_011534528.1:c.340-468G>C | XP_011532830.1:n.340-468G>C | |
| NM_173663.4:c.495G>C | NP_775934.3:p.Glu165Asp | |
| NR_146226.1:n.749G>C | ||
| NR_146227.1:n.785G>C | ||
| XM_005265889.3:c.726G>C | XP_005265946.1:p.Glu242Asp | |
| XM_006714848.3:c.495G>C | XP_006714911.1:p.Glu165Asp | |
| XM_006714849.3:c.495G>C | XP_006714912.1:p.Glu165Asp | |
| XM_011534520.2:c.726G>C | XP_011532822.1:p.Glu242Asp | |
| XM_011534521.3:c.495G>C | XP_011532823.1:p.Glu165Asp | |
| XM_011534522.2:c.495G>C | XP_011532824.1:p.Glu165Asp | |
| XM_011534523.2:c.495G>C | XP_011532825.1:p.Glu165Asp | |
| XM_011534528.2:c.340-468G>C | XP_011532830.1:n.340-468G>C | |
| XM_017009352.1:c.726G>C | XP_016864841.1:p.Glu242Asp | |
| XM_017009353.1:c.726G>C | XP_016864842.1:p.Glu242Asp | |
| XM_017009354.1:c.726G>C | XP_016864843.1:p.Glu242Asp | |
| XM_017009355.1:c.726G>C | XP_016864844.1:p.Glu242Asp | |
| XM_017009356.1:c.726G>C | XP_016864845.1:p.Glu242Asp | |
| XM_017009357.1:c.726G>C | XP_016864846.1:p.Glu242Asp | |
| XM_017009358.1:c.726G>C | XP_016864847.1:p.Glu242Asp | |
| XM_017009359.1:c.726G>C | XP_016864848.1:p.Glu242Asp | |
| XM_017009360.1:c.726G>C | XP_016864849.1:p.Glu242Asp | |
| XM_017009361.1:c.726G>C | XP_016864850.1:p.Glu242Asp | |
| XM_017009362.1:c.582G>C | XP_016864851.1:p.Glu194Asp | |
| XM_017009363.1:c.567G>C | XP_016864852.1:p.Glu189Asp | |
| XM_017009364.1:c.567G>C | XP_016864853.1:p.Glu189Asp | |
| XM_017009365.1:c.567G>C | XP_016864854.1:p.Glu189Asp | |
| XM_017009366.1:c.495G>C | XP_016864855.1:p.Glu165Asp | |
| XM_017009367.1:c.495G>C | XP_016864856.1:p.Glu165Asp | |
| XM_017009369.1:c.495G>C | XP_016864858.1:p.Glu165Asp | |
| XM_017009370.1:c.495G>C | XP_016864859.1:p.Glu165Asp | |
| NM_173663.5:c.495G>C | NP_775934.3:p.Glu165Asp | |
| NR_146226.2:n.749G>C | ||
| NR_146227.2:n.785G>C | ||
| NM_001394339.1:c.726G>C | NP_001381268.1:p.Glu242Asp |