COSMIC:
COSM5019653 (not active)
Revel Score:
ENST00000371321 (MANE Select)
0.097
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03268494 (NFE)
Genomes Max Group AF
0.03044077 (NFE)
Exomes Max Group AF
0.03276235 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775165G>C , CM000672.2:g.94775165G>C | GRCh38 |
| NC_000010.10:g.96534922G>C , CM000672.1:g.96534922G>C | GRCh37 |
| NC_000010.9:g.96524912G>C | NCBI36 |
| NG_008384.2:g.17460G>C | |
| NG_008384.3:g.17485G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.276G>C MANE Select | ENSP00000360372.3:p.Glu92Asp | |
| ENST00000645461.1:n.1329G>C | ||
| ENST00000371321.7:c.276G>C | ENSP00000360372.3:p.Glu92Asp | |
| ENST00000464755.1:c.1039G>C | ENSP00000483243.1:n.1039G>C | |
| ENST00000480405.2:c.276G>C | ENSP00000483847.1:p.Glu92Asp | |
| NM_000769.2:c.276G>C | NP_000760.1:p.Glu92Asp | |
| NM_000769.4:c.276G>C MANE Select | NP_000760.1:p.Glu92Asp |