COSMIC:
COSM1179777 (not active)
Revel Score:
ENST00000280200
0.008
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60073352 (EAS)
Genomes Max Group AF
0.62311386 (EAS)
Exomes Max Group AF
0.59588241 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.69864406T>C , CM000680.2:g.69864406T>C | GRCh38 |
| NC_000018.9:g.67531642T>C , CM000680.1:g.67531642T>C | GRCh37 |
| NC_000018.8:g.65682622T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582621.6:c.919A>G MANE Select | ENSP00000461947.1:p.Ser307Gly | |
| ENST00000280200.8:c.919A>G | ENSP00000280200.4:p.Ser307Gly | |
| ENST00000577287.5:c.454A>G | ENSP00000462453.1:p.Ser152Gly | |
| ENST00000578928.1:c.110-22011A>G | ENSP00000463152.1:n.110-22011A>G | |
| ENST00000581982.5:c.454A>G | ENSP00000464084.1:p.Ser152Gly | |
| ENST00000582621.5:c.919A>G | ENSP00000461947.1:p.Ser307Gly | |
| NM_001303618.1:c.919A>G | NP_001290547.1:p.Ser307Gly | |
| NM_001303619.1:c.454A>G | NP_001290548.1:p.Ser152Gly | |
| NM_006566.3:c.919A>G | NP_006557.2:p.Ser307Gly | |
| XM_005266642.2:c.919A>G | XP_005266699.1:p.Ser307Gly | |
| XM_005266643.2:c.454A>G | XP_005266700.1:p.Ser152Gly | |
| XM_006722374.2:c.550A>G | XP_006722437.1:p.Ser184Gly | |
| XM_005266642.3:c.919A>G | XP_005266699.1:p.Ser307Gly | |
| XM_005266643.3:c.454A>G | XP_005266700.1:p.Ser152Gly | |
| XM_006722374.3:c.550A>G | XP_006722437.1:p.Ser184Gly | |
| XM_017025525.1:c.454A>G | XP_016881014.1:p.Ser152Gly | |
| XM_017025526.1:c.454A>G | XP_016881015.1:p.Ser152Gly | |
| XM_017025527.1:c.454A>G | XP_016881016.1:p.Ser152Gly | |
| NM_001303618.2:c.919A>G MANE Select | NP_001290547.1:p.Ser307Gly | |
| NM_001303619.2:c.454A>G | NP_001290548.1:p.Ser152Gly | |
| NM_006566.4:c.919A>G | NP_006557.2:p.Ser307Gly |