COSMIC:
COSM3756491 (not active)
COSM3756492 (not active)
Revel Score:
ENST00000262811
0.152
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69281186 (EAS)
Genomes Max Group AF
0.66889775 (EAS)
Exomes Max Group AF
0.69389742 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18144549G>A , CM000681.2:g.18144549G>A | GRCh38 |
| NC_000019.9:g.18255359G>A , CM000681.1:g.18255359G>A | GRCh37 |
| NC_000019.8:g.18116359G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697700.2:c.2602G>A | ENSP00000513407.2:p.Gly868Ser | |
| ENST00000697701.1:c.2647G>A | ENSP00000513408.1:p.Gly883Ser | |
| ENST00000697702.1:c.2599G>A | ENSP00000513409.1:p.Gly867Ser | |
| ENST00000704363.1:c.2578G>A | ENSP00000515871.1:p.Gly860Ser | |
| ENST00000687212.1:c.2668G>A MANE Select | ENSP00000509890.1:p.Gly890Ser | |
| ENST00000262811.10:c.2581G>A | ENSP00000262811.4:p.Gly861Ser | |
| NM_015016.1:c.2581G>A | NP_055831.1:p.Gly861Ser | |
| XM_005259822.2:c.3115G>A | XP_005259879.2:p.Gly1039Ser | |
| XM_005259823.2:c.2620G>A | XP_005259880.1:p.Gly874Ser | |
| XM_005259824.2:c.2602G>A | XP_005259881.1:p.Gly868Ser | |
| XM_005259825.2:c.2599G>A | XP_005259882.1:p.Gly867Ser | |
| XM_005259826.2:c.2596G>A | XP_005259883.1:p.Gly866Ser | |
| XM_005259827.1:c.2599G>A | XP_005259884.1:p.Gly867Ser | |
| XM_006722693.2:c.3139G>A | XP_006722756.2:p.Gly1047Ser | |
| XM_006722694.2:c.3136G>A | XP_006722757.2:p.Gly1046Ser | |
| XM_006722695.2:c.3118G>A | XP_006722758.2:p.Gly1040Ser | |
| XM_006722696.2:c.3139G>A | XP_006722759.2:p.Gly1047Ser | |
| XM_006722697.2:c.3118G>A | XP_006722760.2:p.Gly1040Ser | |
| XM_006722698.2:c.2356G>A | XP_006722761.1:p.Gly786Ser | |
| XM_006722699.2:c.2884G>A | XP_006722762.2:p.Gly962Ser | |
| XM_006722700.2:c.2596G>A | XP_006722763.1:p.Gly866Ser | |
| XM_011527823.1:c.2692G>A | XP_011526125.1:p.Gly898Ser | |
| XM_005259823.3:c.2620G>A | XP_005259880.1:p.Gly874Ser | |
| XM_005259826.3:c.2596G>A | XP_005259883.1:p.Gly866Ser | |
| XM_005259827.3:c.2599G>A | XP_005259884.1:p.Gly867Ser | |
| XM_006722700.3:c.2596G>A | XP_006722763.1:p.Gly866Ser | |
| XM_017026506.1:c.2881G>A | XP_016881995.1:p.Gly961Ser | |
| XM_017026507.1:c.2863G>A | XP_016881996.1:p.Gly955Ser | |
| XM_017026508.1:c.2860G>A | XP_016881997.1:p.Gly954Ser | |
| XM_017026509.1:c.2884G>A | XP_016881998.1:p.Gly962Ser | |
| XM_017026510.2:c.2863G>A | XP_016881999.1:p.Gly955Ser | |
| XM_017026511.1:c.2668G>A | XP_016882000.1:p.Gly890Ser | |
| XM_017026512.1:c.2581G>A | XP_016882001.1:p.Gly861Ser | |
| XM_017026513.1:c.2578G>A | XP_016882002.1:p.Gly860Ser | |
| XM_017026514.1:c.2356G>A | XP_016882003.1:p.Gly786Ser | |
| XM_017026515.1:c.2356G>A | XP_016882004.1:p.Gly786Ser | |
| XM_017026516.1:c.2881G>A | XP_016882005.1:p.Gly961Ser | |
| NM_015016.2:c.2581G>A | NP_055831.1:p.Gly861Ser | |
| NM_001393501.1:c.2692G>A | NP_001380430.1:p.Gly898Ser | |
| NM_001393502.1:c.2671G>A | NP_001380431.1:p.Gly891Ser | |
| NM_001393503.1:c.2668G>A | NP_001380432.1:p.Gly890Ser | |
| NM_001393504.1:c.2668G>A MANE Select | NP_001380433.1:p.Gly890Ser | |
| NM_001393505.1:c.2665G>A | NP_001380434.1:p.Gly889Ser | |
| NM_001393506.1:c.2620G>A | NP_001380435.1:p.Gly874Ser | |
| NM_001393507.1:c.2647G>A | NP_001380436.1:p.Gly883Ser | |
| NM_001393508.1:c.2602G>A | NP_001380437.1:p.Gly868Ser | |
| NM_001393509.1:c.2599G>A | NP_001380438.1:p.Gly867Ser | |
| NM_001393510.1:c.2599G>A | NP_001380439.1:p.Gly867Ser | |
| NM_001393511.1:c.2596G>A | NP_001380440.1:p.Gly866Ser | |
| NM_001393512.1:c.2599G>A | NP_001380441.1:p.Gly867Ser | |
| NM_001393513.1:c.2620G>A | NP_001380442.1:p.Gly874Ser | |
| NM_001393514.1:c.2581G>A | NP_001380443.1:p.Gly861Ser | |
| NM_001393515.1:c.2578G>A | NP_001380444.1:p.Gly860Ser | |
| NM_001393516.1:c.2602G>A | NP_001380445.1:p.Gly868Ser | |
| NM_001393517.1:c.2599G>A | NP_001380446.1:p.Gly867Ser | |
| NM_001393518.1:c.2599G>A | NP_001380447.1:p.Gly867Ser | |
| NM_001393519.1:c.2596G>A | NP_001380448.1:p.Gly866Ser | |
| NM_001393520.1:c.2578G>A | NP_001380449.1:p.Gly860Ser | |
| NM_001393521.1:c.2554G>A | NP_001380450.1:p.Gly852Ser |