ClinVar Variation:
COSMIC:
COSN16128038
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00055286 (NFE)
Genomes Max Group AF
0.00039272 (NFE)
Exomes Max Group AF
0.00055518 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103155422G>A , CM000673.2:g.103155422G>A | GRCh38 |
| NC_000011.9:g.103026151G>A , CM000673.1:g.103026151G>A | GRCh37 |
| NC_000011.8:g.102531361G>A | NCBI36 |
| NG_016423.1:g.50992G>A | |
| NG_016423.2:g.50992G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.3665G>A MANE Plus Clinical | ENSP00000497174.1:p.Gly1222Glu | |
| ENST00000375735.7:c.3665G>A MANE Select | ENSP00000364887.2:p.Gly1222Glu | |
| ENST00000648198.1:c.3683G>A | ENSP00000497329.1:p.Gly1228Glu | |
| ENST00000649323.1:c.*1210G>A | ENSP00000497581.1:n.*1210G>A | |
| ENST00000650373.1:c.3665G>A | ENSP00000497174.1:p.Gly1222Glu | |
| ENST00000334267.11:c.2205+21003G>A | ENSP00000334021.7:n.2205+21003G>A | |
| ENST00000375735.6:c.3665G>A | ENSP00000364887.2:p.Gly1222Glu | |
| ENST00000398093.7:c.3665G>A | ENSP00000381167.3:p.Gly1222Glu | |
| NM_001080463.1:c.3665G>A | NP_001073932.1:p.Gly1222Glu | |
| NM_001377.2:c.3665G>A | NP_001368.2:p.Gly1222Glu | |
| XM_006718903.2:c.3665G>A | XP_006718966.1:p.Gly1222Glu | |
| XM_017018291.1:c.3665G>A | XP_016873780.1:p.Gly1222Glu | |
| XM_017018292.1:c.3047G>A | XP_016873781.1:p.Gly1016Glu | |
| XM_017018293.1:c.3665G>A | XP_016873782.1:p.Gly1222Glu | |
| NM_001377.3:c.3665G>A MANE Select | NP_001368.2:p.Gly1222Glu | |
| NM_001080463.2:c.3665G>A MANE Plus Clinical | NP_001073932.1:p.Gly1222Glu |