Revel Score:
ENST00000257177 (MANE Select)
0.253
ENST00000371544
0.253
ENST00000528642
0.253
ENST00000355809
0.253
ENST00000470626
0.253
ENST00000524582
0.253
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015408 (EAS)
Genomes Max Group AF
0.0001568 (EAS)
Exomes Max Group AF
0.0001183 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.52526171C>A , CM000663.2:g.52526171C>A | GRCh38 |
| NC_000001.10:g.52991843C>A , CM000663.1:g.52991843C>A | GRCh37 |
| NC_000001.9:g.52764431C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257177.9:c.110G>T MANE Select | ENSP00000257177.4:p.Arg37Ile | |
| ENST00000257177.8:c.110G>T | ENSP00000257177.4:p.Arg37Ile | |
| ENST00000355809.4:c.110G>T | ENSP00000348063.4:p.Arg37Ile | |
| ENST00000371544.7:c.110G>T | ENSP00000360599.3:p.Arg37Ile | |
| ENST00000470626.1:c.110G>T | ENSP00000434367.1:p.Arg37Ile | |
| ENST00000473856.5:c.110G>T | ENSP00000432328.1:p.Arg37Ile | |
| ENST00000484723.6:c.-5-10117G>T | ENSP00000435256.1:n.-5-10117G>T | |
| ENST00000524582.1:c.110G>T | ENSP00000435568.1:p.Arg37Ile | |
| ENST00000528642.5:c.110G>T | ENSP00000433486.1:p.Arg37Ile | |
| NM_001009881.2:c.110G>T | NP_001009881.1:p.Arg37Ile | |
| NM_015269.2:c.110G>T | NP_056084.1:p.Arg37Ile | |
| XM_005270676.2:c.110G>T | XP_005270733.1:p.Arg37Ile | |
| XM_005270678.2:c.110G>T | XP_005270735.1:p.Arg37Ile | |
| XM_005270679.2:c.110G>T | XP_005270736.1:p.Arg37Ile | |
| XM_005270680.2:c.110G>T | XP_005270737.1:p.Arg37Ile | |
| XM_005270681.2:c.110G>T | XP_005270738.1:p.Arg37Ile | |
| XM_005270682.2:c.110G>T | XP_005270739.1:p.Arg37Ile | |
| XM_005270683.2:c.110G>T | XP_005270740.1:p.Arg37Ile | |
| XM_005270684.3:c.110G>T | XP_005270741.1:p.Arg37Ile | |
| XM_005270685.3:c.110G>T | XP_005270742.1:p.Arg37Ile | |
| XM_006710498.2:c.110G>T | XP_006710561.1:p.Arg37Ile | |
| XM_006710499.2:c.110G>T | XP_006710562.1:p.Arg37Ile | |
| XM_006710500.1:c.110G>T | XP_006710563.1:p.Arg37Ile | |
| XM_011541097.1:c.110G>T | XP_011539399.1:p.Arg37Ile | |
| XM_011541098.1:c.110G>T | XP_011539400.1:p.Arg37Ile | |
| XM_011541099.1:c.110G>T | XP_011539401.1:p.Arg37Ile | |
| XM_011541100.1:c.110G>T | XP_011539402.1:p.Arg37Ile | |
| XM_011541101.1:c.110G>T | XP_011539403.1:p.Arg37Ile | |
| XM_011541102.1:c.110G>T | XP_011539404.1:p.Arg37Ile | |
| XM_005270680.3:c.110G>T | XP_005270737.1:p.Arg37Ile | |
| XM_006710499.3:c.110G>T | XP_006710562.1:p.Arg37Ile | |
| XM_011541100.2:c.110G>T | XP_011539402.1:p.Arg37Ile | |
| XM_011541101.2:c.110G>T | XP_011539403.1:p.Arg37Ile | |
| XM_017000803.1:c.110G>T | XP_016856292.1:p.Arg37Ile | |
| XM_017000804.2:c.110G>T | XP_016856293.1:p.Arg37Ile | |
| XM_017000805.2:c.110G>T | XP_016856294.1:p.Arg37Ile | |
| XM_017000806.1:c.110G>T | XP_016856295.1:p.Arg37Ile | |
| XM_017000807.2:c.110G>T | XP_016856296.1:p.Arg37Ile | |
| XM_017000808.1:c.110G>T | XP_016856297.1:p.Arg37Ile | |
| XM_017000809.2:c.110G>T | XP_016856298.1:p.Arg37Ile | |
| XM_017000810.2:c.110G>T | XP_016856299.1:p.Arg37Ile | |
| XM_017000811.2:c.110G>T | XP_016856300.1:p.Arg37Ile | |
| XM_017000812.2:c.110G>T | XP_016856301.1:p.Arg37Ile | |
| XM_017000813.2:c.110G>T | XP_016856302.1:p.Arg37Ile | |
| XM_017000814.2:c.110G>T | XP_016856303.1:p.Arg37Ile | |
| XM_017000815.2:c.110G>T | XP_016856304.1:p.Arg37Ile | |
| XM_017000816.1:c.110G>T | XP_016856305.1:p.Arg37Ile | |
| XM_017000817.1:c.110G>T | XP_016856306.1:p.Arg37Ile | |
| XM_017000818.1:c.110G>T | XP_016856307.1:p.Arg37Ile | |
| XR_001737073.1:n.372G>T | ||
| XR_001737074.2:n.372G>T | ||
| XR_002959846.1:n.372G>T | ||
| NM_001009881.3:c.110G>T MANE Select | NP_001009881.1:p.Arg37Ile |