COSMIC:
COSM3760777 (not active)
COSM3760778 (not active)
Revel Score:
ENST00000502871
0.268
ENST00000335016
0.268
ENST00000264889
0.268
ENST00000502613 (MANE Select)
0.037
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23059052 (EAS)
Genomes Max Group AF
0.20410177 (EAS)
Exomes Max Group AF
0.23290444 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78865702G>A , CM000666.2:g.78865702G>A | GRCh38 |
| NC_000004.11:g.79786856G>A , CM000666.1:g.79786856G>A | GRCh37 |
| NC_000004.10:g.80005880G>A | NCBI36 |
| NG_047162.1:g.94325G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502613.3:c.1213G>A MANE Select | ENSP00000424668.2:p.Gly405Ser | |
| ENST00000335016.9:c.1213G>A | ENSP00000334836.5:p.Gly405Ser | |
| ENST00000389010.7:c.*189G>A | ENSP00000373662.3:n.*189G>A | |
| ENST00000502613.1:c.290G>A | ||
| ENST00000502871.5:c.1213G>A | ENSP00000421768.1:p.Gly405Ser | |
| ENST00000505725.1:n.495G>A | ||
| ENST00000628286.1:c.*189G>A | ENSP00000487317.1:n.*189G>A | |
| NM_017593.3:c.1213G>A | NP_060063.2:p.Gly405Ser | |
| NM_198892.1:c.1213G>A | NP_942595.1:p.Gly405Ser | |
| XM_005263117.1:c.1213G>A | XP_005263174.1:p.Gly405Ser | |
| XM_011532101.1:c.973G>A | XP_011530403.1:p.Gly325Ser | |
| XM_011532102.1:c.1213G>A | XP_011530404.1:p.Gly405Ser | |
| XM_017008381.1:c.973G>A | XP_016863870.1:p.Gly325Ser | |
| XM_017008382.1:c.325G>A | XP_016863871.1:p.Gly109Ser | |
| NM_017593.4:c.1213G>A | NP_060063.2:p.Gly405Ser | |
| NM_017593.5:c.1213G>A | NP_060063.2:p.Gly405Ser | |
| NM_198892.2:c.1213G>A MANE Select | NP_942595.1:p.Gly405Ser |