Revel Score:
ENST00000372874 (MANE Select)
0.980
ENST00000537820
0.980
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000879 (NFE)
Exomes Max Group AF
0.00000853 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44636264C>T , CM000682.2:g.44636264C>T | GRCh38 |
| NC_000020.10:g.43264905C>T , CM000682.1:g.43264905C>T | GRCh37 |
| NC_000020.9:g.42698319C>T | NCBI36 |
| NG_007385.1:g.20472G>A , LRG_16:g.20472G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.149G>A | ||
| ENST00000536076.2:c.-96G>A | ENSP00000512234.1:n.-96G>A | |
| ENST00000536532.6:c.58G>A | ENSP00000440946.1:p.Gly20Arg | |
| ENST00000537820.2:c.58G>A | ENSP00000441818.1:p.Gly20Arg | |
| ENST00000539235.6:c.58G>A | ENSP00000446464.1:p.Gly20Arg | |
| ENST00000695889.1:c.58G>A | ENSP00000512240.1:p.Gly20Arg | |
| ENST00000695891.1:c.58G>A | ENSP00000512241.1:p.Gly20Arg | |
| ENST00000695927.1:c.136G>A | ENSP00000512270.1:p.Gly46Arg | |
| ENST00000695949.1:c.58G>A | ENSP00000512281.1:p.Gly20Arg | |
| ENST00000695957.1:c.58G>A | ENSP00000512286.1:p.Gly20Arg | |
| ENST00000695991.1:c.58G>A | ENSP00000512314.1:p.Gly20Arg | |
| ENST00000695992.1:c.58G>A | ENSP00000512315.1:p.Gly20Arg | |
| ENST00000695993.1:c.58G>A | ENSP00000512316.1:p.Gly20Arg | |
| ENST00000695994.1:c.58G>A | ENSP00000512317.1:p.Gly20Arg | |
| ENST00000695995.1:c.58G>A | ENSP00000512318.1:p.Gly20Arg | |
| ENST00000695996.1:n.129G>A | ||
| ENST00000695997.1:n.129G>A | ||
| ENST00000696003.1:n.150G>A | ||
| ENST00000696004.1:n.150G>A | ||
| ENST00000696006.1:c.58G>A | ENSP00000512325.1:p.Gly20Arg | |
| ENST00000696007.1:c.25G>A | ENSP00000512326.1:p.Gly9Arg | |
| ENST00000696009.1:n.169G>A | ||
| ENST00000696010.1:n.171G>A | ||
| ENST00000696017.1:c.58G>A | ENSP00000512333.1:p.Gly20Arg | |
| ENST00000696034.1:c.58G>A | ENSP00000512343.1:p.Gly20Arg | |
| ENST00000696038.1:c.58G>A | ENSP00000512344.1:p.Gly20Arg | |
| ENST00000696039.1:n.346G>A | ||
| ENST00000696058.1:c.58G>A | ENSP00000512361.1:p.Gly20Arg | |
| ENST00000696059.1:c.*3G>A | ENSP00000512362.1:n.*3G>A | |
| ENST00000696060.1:c.58G>A | ENSP00000512363.1:p.Gly20Arg | |
| ENST00000696061.1:c.58G>A | ENSP00000512364.1:p.Gly20Arg | |
| ENST00000696062.1:c.121G>A | ENSP00000512365.1:p.Gly41Arg | |
| ENST00000696063.1:c.133G>A | ENSP00000512366.1:p.Gly45Arg | |
| ENST00000696064.1:c.-93G>A | ENSP00000512367.1:n.-93G>A | |
| ENST00000696065.1:c.-96G>A | ENSP00000512368.1:n.-96G>A | |
| ENST00000696075.1:c.58G>A | ENSP00000512374.1:p.Gly20Arg | |
| ENST00000696076.1:c.58G>A | ENSP00000512375.1:p.Gly20Arg | |
| ENST00000696077.1:c.58G>A | ENSP00000512376.1:p.Gly20Arg | |
| ENST00000696078.1:c.58G>A | ENSP00000512377.1:p.Gly20Arg | |
| ENST00000696079.1:c.58G>A | ENSP00000512378.1:p.Gly20Arg | |
| ENST00000696080.1:c.58G>A | ENSP00000512379.1:p.Gly20Arg | |
| ENST00000696082.1:c.136G>A | ENSP00000512380.1:p.Gly46Arg | |
| ENST00000696084.1:n.159G>A | ||
| ENST00000696104.1:c.58G>A | ENSP00000512399.1:p.Gly20Arg | |
| ENST00000696105.1:c.58G>A | ENSP00000512400.1:p.Gly20Arg | |
| ENST00000372874.9:c.58G>A MANE Select | ENSP00000361965.4:p.Gly20Arg | |
| ENST00000372874.8:c.58G>A | ENSP00000361965.4:p.Gly20Arg | |
| ENST00000492931.5:n.142G>A | ||
| ENST00000535573.1:n.357G>A | ||
| ENST00000536076.1:n.238G>A | ||
| ENST00000536532.5:c.58G>A | ENSP00000440946.1:p.Gly20Arg | |
| ENST00000537820.1:c.58G>A | ENSP00000441818.1:p.Gly20Arg | |
| ENST00000539235.5:c.58G>A | ENSP00000446464.1:p.Gly20Arg | |
| ENST00000545776.5:n.112G>A | ||
| NM_000022.2:c.58G>A , LRG_16t1:c.58G>A | NP_000013.2:p.Gly20Arg | |
| XM_005260236.2:c.58G>A | XP_005260293.1:p.Gly20Arg | |
| XM_011528478.1:c.-232G>A | XP_011526780.1:n.-232G>A | |
| XM_011528479.1:c.-232G>A | XP_011526781.1:n.-232G>A | |
| XR_244129.1:n.112G>A | ||
| NM_000022.3:c.58G>A | NP_000013.2:p.Gly20Arg | |
| NM_001322050.1:c.-232G>A | NP_001308979.1:n.-232G>A | |
| NM_001322051.1:c.58G>A | NP_001308980.1:p.Gly20Arg | |
| NR_136160.1:n.209G>A | ||
| NM_000022.4:c.58G>A MANE Select | NP_000013.2:p.Gly20Arg | |
| NM_001322050.2:c.-232G>A | NP_001308979.1:n.-232G>A | |
| NM_001322051.2:c.58G>A | NP_001308980.1:p.Gly20Arg | |
| NR_136160.2:n.150G>A |