COSMIC:
COSM5019616 (not active)
COSM5019617 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.124785 (AFR)
Genomes Max Group AF
0.12293783 (AFR)
Exomes Max Group AF
0.1251115 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68839435A>G , CM000674.2:g.68839435A>G | GRCh38 |
| NC_000012.11:g.69233215A>G , CM000674.1:g.69233215A>G | GRCh37 |
| NC_000012.10:g.67519482A>G | NCBI36 |
| NG_016708.1:g.36245A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258149.11:c.1080A>G MANE Select | ENSP00000258149.6:p.Glu360= | |
| ENST00000258149.10:c.1080A>G | ENSP00000258149.6:p.Glu360= | |
| ENST00000348801.7:c.385A>G | ||
| ENST00000393416.7:c.1155A>G | ENSP00000377068.3:p.Glu385= | |
| ENST00000393417.8:c.*936A>G | ENSP00000429021.3:n.*936A>G | |
| ENST00000478070.2:c.279A>G | ||
| ENST00000481186.6:c.643A>G | ||
| ENST00000539479.6:c.1062A>G | ENSP00000444430.2:p.Glu354= | |
| ENST00000544561.6:c.954A>G | ENSP00000441841.2:p.Glu318= | |
| ENST00000545204.2:c.340A>G | ENSP00000444597.2:n.340A>G | |
| ENST00000665020.1:c.946A>G | ENSP00000499718.1:n.946A>G | |
| ENST00000666617.1:c.973A>G | ENSP00000499763.1:n.973A>G | |
| ENST00000671567.1:c.1001A>G | ENSP00000499407.1:n.1001A>G | |
| ENST00000258148.11:c.915A>G | ENSP00000258148.7:p.Glu305= | |
| ENST00000258149.9:c.1080A>G | ENSP00000258149.6:p.Glu360= | |
| ENST00000299252.8:c.552A>G | ENSP00000299252.4:p.Glu184= | |
| ENST00000311420.13:c.*691A>G | ENSP00000310742.9:n.*691A>G | |
| ENST00000348801.6:c.384A>G | ENSP00000335096.3:p.Glu128= | |
| ENST00000350057.9:c.987A>G | ENSP00000266624.9:p.Glu329= | |
| ENST00000356290.8:c.552A>G | ENSP00000348637.4:p.Glu184= | |
| ENST00000360430.6:c.477A>G | ENSP00000353611.2:p.Glu159= | |
| ENST00000393410.5:c.318A>G | ENSP00000377062.1:p.Glu106= | |
| ENST00000393412.7:c.318A>G | ENSP00000377064.4:p.Glu106= | |
| ENST00000393413.7:c.243A>G | ENSP00000377065.3:p.Glu81= | |
| ENST00000393417.7:c.*936A>G | ENSP00000429021.2:n.*936A>G | |
| ENST00000428863.6:c.506-188A>G | ENSP00000410694.3:n.506-188A>G | |
| ENST00000462284.5:c.987A>G | ENSP00000417281.2:p.Glu329= | |
| ENST00000478070.1:c.278A>G | ENSP00000430906.1:n.278A>G | |
| ENST00000481186.5:c.642A>G | ENSP00000431110.1:n.642A>G | |
| ENST00000496959.5:c.483A>G | ENSP00000429692.1:n.483A>G | |
| ENST00000517852.5:c.157-178A>G | ENSP00000430257.1:n.157-178A>G | |
| ENST00000536089.5:c.767A>G | ENSP00000444028.1:n.767A>G | |
| ENST00000537182.5:c.597A>G | ENSP00000443450.1:n.597A>G | |
| ENST00000540352.5:c.901A>G | ENSP00000445030.1:n.901A>G | |
| ENST00000542502.5:c.713A>G | ENSP00000444566.1:n.713A>G | |
| ENST00000544561.5:c.184-327A>G | ENSP00000441841.1:n.184-327A>G | |
| ENST00000545204.1:c.88-104A>G | ENSP00000444597.1:n.88-104A>G | |
| ENST00000546048.5:c.289-340A>G | ENSP00000445222.1:n.289-340A>G | |
| NM_001145337.2:c.921A>G | NP_001138809.1:p.Glu307= | |
| NM_001145339.2:c.915A>G | NP_001138811.1:p.Glu305= | |
| NM_001145340.2:c.474A>G | NP_001138812.1:p.Glu158= | |
| NM_001278462.1:c.552A>G | NP_001265391.1:p.Glu184= | |
| NM_002392.5:c.1080A>G | NP_002383.2:p.Glu360= | |
| XM_005268872.3:c.1062A>G | XP_005268929.1:p.Glu354= | |
| XM_006719399.2:c.879A>G | XP_006719462.1:p.Glu293= | |
| XM_006719400.2:c.759A>G | XP_006719463.1:p.Glu253= | |
| XM_005268872.5:c.1062A>G | XP_005268929.1:p.Glu354= | |
| XM_006719399.4:c.879A>G | XP_006719462.1:p.Glu293= | |
| XM_006719400.4:c.759A>G | XP_006719463.1:p.Glu253= | |
| NM_001145337.3:c.921A>G | NP_001138809.1:p.Glu307= | |
| NM_001145340.3:c.474A>G | NP_001138812.1:p.Glu158= | |
| NM_001278462.2:c.552A>G | NP_001265391.1:p.Glu184= | |
| NM_001367990.1:c.1062A>G | NP_001354919.1:p.Glu354= | |
| NM_002392.6:c.1080A>G MANE Select | NP_002383.2:p.Glu360= |