COSMIC:
COSM4158225 (not active)
Revel Score:
ENST00000542827
0.063
ENST00000273283 (MANE Select)
0.063
ENST00000540715
0.063
ENST00000537050
0.063
ENST00000428133
0.063
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51785535 (AMR)
Genomes Max Group AF
0.48827629 (AFR)
Exomes Max Group AF
0.52996338 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52786995A>G , CM000665.2:g.52786995A>G | GRCh38 |
| NC_000003.11:g.52821011A>G , CM000665.1:g.52821011A>G | GRCh37 |
| NC_000003.10:g.52796051A>G | NCBI36 |
| NG_016005.1:g.14404A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273283.7:c.1784A>G MANE Select | ENSP00000273283.2:p.Gln595Arg | |
| ENST00000273283.6:c.1784A>G | ENSP00000273283.2:p.Gln595Arg | |
| ENST00000428133.5:c.443A>G | ENSP00000395836.1:p.Gln148Arg | |
| ENST00000484844.2:c.51A>G | ||
| ENST00000537050.5:c.920A>G | ENSP00000443847.1:p.Gln307Arg | |
| ENST00000628722.2:n.1639A>G | ||
| NM_001166434.2:c.1358A>G | NP_001159906.1:p.Gln453Arg | |
| NM_001166435.2:c.920A>G | NP_001159907.1:p.Gln307Arg | |
| NM_001166436.2:c.920A>G | NP_001159908.1:p.Gln307Arg | |
| NM_002215.3:c.1784A>G | NP_002206.2:p.Gln595Arg | |
| NM_002215.4:c.1784A>G MANE Select | NP_002206.2:p.Gln595Arg | |
| NM_001166434.3:c.1358A>G | NP_001159906.1:p.Gln453Arg |