COSMIC:
COSM3736306 (not active)
Revel Score:
ENST00000402696 (MANE Select)
0.164
ENST00000264998
0.164
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05622699 (MID)
Genomes Max Group AF
0.05432154 (NFE)
Exomes Max Group AF
0.05627294 (MID)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133756968G>A , CM000665.2:g.133756968G>A | GRCh38 |
| NC_000003.11:g.133475812G>A , CM000665.1:g.133475812G>A | GRCh37 |
| NC_000003.10:g.134958502G>A | NCBI36 |
| NG_013080.1:g.15836G>A | |
| NG_013080.2:g.99971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.829G>A MANE Select | ENSP00000385834.3:p.Gly277Ser | |
| ENST00000402696.7:c.829G>A | ENSP00000385834.3:p.Gly277Ser | |
| ENST00000485977.1:c.194G>A | ENSP00000418716.1:p.Arg65Gln | |
| NM_001063.3:c.829G>A | NP_001054.1:p.Gly277Ser | |
| XM_011513100.1:c.829G>A | XP_011511402.1:p.Gly277Ser | |
| NM_001354703.1:c.697G>A | NP_001341632.1:p.Gly233Ser | |
| NM_001354704.1:c.448G>A | NP_001341633.1:p.Gly150Ser | |
| NM_001063.4:c.829G>A MANE Select | NP_001054.2:p.Gly277Ser | |
| NM_001354703.2:c.697G>A | NP_001341632.2:p.Gly233Ser | |
| NM_001354704.2:c.448G>A | NP_001341633.2:p.Gly150Ser |