COSMIC:
COSM3746893 (not active)
Revel Score:
ENST00000318749
0.132
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48644862 (EAS)
Genomes Max Group AF
0.49307254 (EAS)
Exomes Max Group AF
0.48385886 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247451315C>T , CM000663.2:g.247451315C>T | GRCh38 |
| NC_000001.10:g.247614617C>T , CM000663.1:g.247614617C>T | GRCh37 |
| NC_000001.9:g.245681240C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641149.2:c.668G>A MANE Select | ENSP00000492892.1:p.Gly223Asp | |
| ENST00000318749.8:c.668G>A | ENSP00000325682.6:p.Gly223Asp | |
| ENST00000641149.1:c.668G>A | ENSP00000492892.1:p.Gly223Asp | |
| ENST00000641527.1:c.668G>A | ENSP00000493421.1:p.Gly223Asp | |
| ENST00000641613.1:n.1322G>A | ||
| ENST00000318749.7:c.668G>A | ENSP00000325682.6:p.Gly223Asp | |
| NM_001004492.1:c.668G>A | NP_001004492.1:p.Gly223Asp | |
| NM_001004492.2:c.668G>A MANE Select | NP_001004492.1:p.Gly223Asp | |
| NR_169840.1:n.1322G>A |