ClinVar Variation:
COSMIC:
COSM3759494
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.37696851 (AFR)
Genomes Max Group AF
0.3706761 (AFR)
Exomes Max Group AF
0.38044736 (AFR)
Revel Score:
ENST00000039007 (MANE Select)
0.407
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38367350A>G , CM000685.2:g.38367350A>G | GRCh38 |
| NC_000023.10:g.38226603A>G , CM000685.1:g.38226603A>G | GRCh37 |
| NC_000023.9:g.38111547A>G | NCBI36 |
| NG_008471.1:g.19868A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.137A>G MANE Select | ENSP00000039007.4:p.Lys46Arg | |
| ENST00000643344.1:c.137A>G | ENSP00000496606.1:p.Lys46Arg | |
| ENST00000039007.4:c.137A>G | ENSP00000039007.4:p.Lys46Arg | |
| ENST00000465127.1:c.172-298771A>G | ENSP00000417050.1:n.172-298771A>G | |
| ENST00000488812.1:n.229A>G | ||
| NM_000531.5:c.137A>G | NP_000522.3:p.Lys46Arg | |
| XM_017029556.1:c.137A>G | XP_016885045.1:p.Lys46Arg | |
| NM_000531.6:c.137A>G MANE Select | NP_000522.3:p.Lys46Arg |