COSMIC:
COSM3756926 (not active)
Revel Score:
ENST00000291187
0.155
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46095733 (SAS)
Genomes Max Group AF
0.45071936 (SAS)
Exomes Max Group AF
0.46073687 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44428797C>T , CM000681.2:g.44428797C>T | GRCh38 |
| NC_000019.9:g.44932972C>T , CM000681.1:g.44932972C>T | GRCh37 |
| NC_000019.8:g.49624812C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614049.5:c.1984G>A MANE Select | ENSP00000479884.1:p.Gly662Arg | |
| ENST00000591289.5:n.523-11251G>A | ||
| ENST00000613197.4:c.1966G>A | ENSP00000479807.1:p.Gly656Arg | |
| ENST00000614049.4:c.1984G>A | ENSP00000479884.1:p.Gly662Arg | |
| ENST00000620012.4:c.*2187G>A | ENSP00000483138.1:n.*2187G>A | |
| NM_001278510.2:c.1966G>A | NP_001265439.2:p.Gly656Arg | |
| NM_014518.3:c.1984G>A | NP_055333.3:p.Gly662Arg | |
| NR_103551.2:n.2873G>A | ||
| XM_006723372.2:c.1900G>A | XP_006723435.1:p.Gly634Arg | |
| XM_011527292.1:c.1966G>A | XP_011525594.1:p.Gly656Arg | |
| XM_006723372.4:c.1900G>A | XP_006723435.1:p.Gly634Arg | |
| XM_011527292.2:c.1966G>A | XP_011525594.1:p.Gly656Arg | |
| XM_017027280.2:c.946G>A | XP_016882769.1:p.Gly316Arg | |
| NM_014518.4:c.1984G>A MANE Select | NP_055333.3:p.Gly662Arg | |
| NR_103551.3:n.2868G>A | ||
| NM_001278510.3:c.1966G>A | NP_001265439.2:p.Gly656Arg |