COSMIC:
COSM4985163 (not active)
Revel Score:
ENST00000262418 (MANE Select)
0.079
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1174901 (EAS)
Genomes Max Group AF
0.09584876 (AFR)
Exomes Max Group AF
0.1217648 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44261577T>C , CM000679.2:g.44261577T>C | GRCh38 |
| NC_000017.10:g.42338945T>C , CM000679.1:g.42338945T>C | GRCh37 |
| NC_000017.9:g.39694471T>C | NCBI36 |
| NG_007498.1:g.11558A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262418.12:c.166A>G MANE Select | ENSP00000262418.6:p.Lys56Glu | |
| ENST00000262418.10:c.166A>G | ENSP00000262418.6:p.Lys56Glu | |
| ENST00000399246.3:c.166A>G | ENSP00000382190.3:p.Lys56Glu | |
| ENST00000471005.5:n.100A>G | ||
| ENST00000497360.5:n.305A>G | ||
| ENST00000498270.1:n.447A>G | ||
| NM_000342.3:c.166A>G | NP_000333.1:p.Lys56Glu | |
| XM_005257593.3:c.-30A>G | XP_005257650.1:n.-30A>G | |
| XM_011525129.1:c.166A>G | XP_011523431.1:p.Lys56Glu | |
| XM_011525130.1:c.166A>G | XP_011523432.1:p.Lys56Glu | |
| XM_011525131.1:c.166A>G | XP_011523433.1:p.Lys56Glu | |
| XM_005257593.5:c.-30A>G | XP_005257650.1:n.-30A>G | |
| XM_011525129.2:c.166A>G | XP_011523431.1:p.Lys56Glu | |
| NM_000342.4:c.166A>G MANE Select | NP_000333.1:p.Lys56Glu |