Revel Score:
ENST00000409134 (MANE Select)
0.917
ENST00000553117
0.917
ENST00000447989
0.917
ENST00000509270
0.917
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126583997G>C , CM000667.2:g.126583997G>C | GRCh38 |
| NC_000005.9:g.125919689G>C , CM000667.1:g.125919689G>C | GRCh37 |
| NC_000005.8:g.125947588G>C | NCBI36 |
| NG_008600.2:g.16394C>G | |
| NG_008600.3:g.16394C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409134.8:c.328C>G MANE Select | ENSP00000387123.3:p.Arg110Gly | |
| ENST00000412186.2:c.328C>G | ENSP00000414536.2:p.Arg110Gly | |
| ENST00000413020.6:c.328C>G | ENSP00000487936.1:p.Arg110Gly | |
| ENST00000458249.6:c.*237C>G | ENSP00000403929.1:n.*237C>G | |
| ENST00000479989.6:n.511C>G | ||
| ENST00000503281.6:c.107-6786C>G | ||
| ENST00000509270.2:c.262C>G | ENSP00000449318.2:p.Arg88Gly | |
| ENST00000509459.6:c.66-6786C>G | ||
| ENST00000511266.6:n.1050C>G | ||
| ENST00000635851.1:c.326C>G | ||
| ENST00000636062.1:n.223C>G | ||
| ENST00000636190.1:n.207C>G | ||
| ENST00000636225.1:c.*137C>G | ENSP00000490797.1:n.*137C>G | |
| ENST00000636286.1:n.46C>G | ||
| ENST00000636743.1:c.208C>G | ENSP00000489725.1:p.Arg70Gly | |
| ENST00000636808.1:c.*137C>G | ENSP00000490833.1:n.*137C>G | |
| ENST00000636872.1:c.488C>G | ENSP00000490919.1:n.488C>G | |
| ENST00000636879.1:c.328C>G | ENSP00000490811.1:p.Arg110Gly | |
| ENST00000636886.1:c.193-1023C>G | ENSP00000490371.1:n.193-1023C>G | |
| ENST00000637206.1:c.328C>G | ENSP00000489895.1:p.Arg110Gly | |
| ENST00000637272.1:c.328C>G | ENSP00000489686.1:p.Arg110Gly | |
| ENST00000637782.1:c.328C>G | ENSP00000490024.1:p.Arg110Gly | |
| ENST00000637964.1:c.274C>G | ENSP00000490291.1:p.Arg92Gly | |
| ENST00000638008.1:c.*270C>G | ENSP00000490400.1:n.*270C>G | |
| ENST00000409134.7:c.328C>G | ENSP00000387123.3:p.Arg110Gly | |
| ENST00000412186.1:c.*137C>G | ENSP00000414536.1:n.*137C>G | |
| ENST00000413020.5:c.328C>G | ENSP00000487936.1:p.Arg110Gly | |
| ENST00000447989.6:c.409C>G | ENSP00000414132.2:p.Arg137Gly | |
| ENST00000458249.5:c.488C>G | ENSP00000403929.1:n.488C>G | |
| ENST00000479989.5:n.511C>G | ||
| ENST00000503281.5:c.107-6786C>G | ||
| ENST00000509270.1:c.208C>G | ENSP00000449318.1:p.Arg70Gly | |
| ENST00000509459.5:c.66-6786C>G | ||
| ENST00000510111.6:c.307-1023C>G | ENSP00000447388.1:n.307-1023C>G | |
| ENST00000511266.5:n.283C>G | ||
| ENST00000553117.5:c.328C>G | ENSP00000448593.1:p.Arg110Gly | |
| NM_001182.4:c.328C>G | NP_001173.2:p.Arg110Gly | |
| NM_001201377.1:c.244C>G | NP_001188306.1:p.Arg82Gly | |
| NM_001202404.1:c.409C>G | NP_001189333.1:p.Arg137Gly | |
| XM_011543417.1:c.-78C>G | XP_011541719.1:n.-78C>G | |
| XM_011543417.2:c.-78C>G | XP_011541719.1:n.-78C>G | |
| NM_001182.5:c.328C>G MANE Select | NP_001173.2:p.Arg110Gly | |
| NM_001201377.2:c.244C>G | NP_001188306.1:p.Arg82Gly | |
| NM_001202404.2:c.328C>G | NP_001189333.2:p.Arg110Gly |