COSMIC:
COSM6350486 (not active)
Revel Score:
ENST00000291582 (MANE Select)
0.200
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35442075 (EAS)
Genomes Max Group AF
0.35082181 (EAS)
Exomes Max Group AF
0.3534201 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44290023C>G , CM000683.2:g.44290023C>G | GRCh38 |
| NC_000021.8:g.45709906C>G , CM000683.1:g.45709906C>G | GRCh37 |
| NC_000021.7:g.44534334C>G | NCBI36 |
| NG_009556.1:g.9144C>G , LRG_18:g.9144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.834C>G MANE Select | ENSP00000291582.5:p.Ser278Arg | |
| ENST00000291582.5:c.834C>G | ENSP00000291582.5:p.Ser278Arg | |
| ENST00000527919.5:n.1567C>G | ||
| ENST00000530812.5:n.2584C>G | ||
| NM_000383.3:c.834C>G | NP_000374.1:p.Ser278Arg | |
| XM_011529551.1:c.834C>G | XP_011527853.1:p.Ser278Arg | |
| NM_000383.4:c.834C>G MANE Select | NP_000374.1:p.Ser278Arg |