COSMIC:
COSM4129132 (not active)
Revel Score:
ENST00000438926
0.173
ENST00000262502
0.173
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.99195717 (EAS)
Genomes Max Group AF
0.98570939 (AFR)
Exomes Max Group AF
0.99143214 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56870675C>G , CM000678.2:g.56870675C>G | GRCh38 |
| NC_000016.9:g.56904587C>G , CM000678.1:g.56904587C>G | GRCh37 |
| NC_000016.8:g.55462088C>G | NCBI36 |
| NG_009386.2:g.10469C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563236.6:c.791C>G MANE Select | ENSP00000456149.2:p.Ala264Gly | |
| ENST00000262502.5:c.788C>G | ENSP00000262502.5:p.Ala263Gly | |
| ENST00000438926.6:c.791C>G | ENSP00000402152.2:p.Ala264Gly | |
| ENST00000563236.5:c.791C>G | ENSP00000456149.1:p.Ala264Gly | |
| ENST00000566786.5:c.788C>G | ENSP00000457552.1:p.Ala263Gly | |
| XM_005256119.1:c.788C>G | XP_005256176.1:p.Ala263Gly | |
| XM_005256119.2:c.788C>G | XP_005256176.1:p.Ala263Gly | |
| NM_000339.3:c.791C>G | NP_000330.3:p.Ala264Gly | |
| NM_001126107.2:c.788C>G | NP_001119579.2:p.Ala263Gly | |
| NM_001126108.2:c.791C>G MANE Select | NP_001119580.2:p.Ala264Gly |