COSMIC:
COSM5020476 (not active)
COSM5020477 (not active)
Revel Score:
ENST00000286301
0.084
ENST00000394307
0.084
ENST00000543093
0.056
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31847287 (EAS)
Genomes Max Group AF
0.35114613 (EAS)
Exomes Max Group AF
0.31212769 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150070569T>C , CM000667.2:g.150070569T>C | GRCh38 |
| NC_000005.9:g.149450132T>C , CM000667.1:g.149450132T>C | GRCh37 |
| NC_000005.8:g.149430325T>C | NCBI36 |
| NG_012303.1:g.47804A>G | |
| NG_012303.2:g.47804A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675795.1:c.1085A>G MANE Select | ENSP00000501699.1:p.His362Arg | |
| ENST00000286301.7:c.1085A>G | ENSP00000286301.3:p.His362Arg | |
| ENST00000504875.5:c.1085A>G | ENSP00000422212.1:p.His362Arg | |
| ENST00000543093.1:c.892A>G | ENSP00000445282.1:p.Thr298Ala | |
| NM_001288705.1:c.1085A>G | NP_001275634.1:p.His362Arg | |
| NM_005211.3:c.1085A>G | NP_005202.2:p.His362Arg | |
| NR_109969.1:n.1298A>G | ||
| NM_001288705.2:c.1085A>G | NP_001275634.1:p.His362Arg | |
| NM_001349736.1:c.1085A>G | NP_001336665.1:p.His362Arg | |
| NM_001288705.3:c.1085A>G MANE Select | NP_001275634.1:p.His362Arg | |
| NM_001375320.1:c.1085A>G | NP_001362249.1:p.His362Arg | |
| NM_001375321.1:c.641A>G | NP_001362250.1:p.His214Arg | |
| NR_164679.1:n.1141A>G | ||
| NM_001349736.2:c.1085A>G | NP_001336665.1:p.His362Arg | |
| NM_005211.4:c.1085A>G | NP_005202.2:p.His362Arg | |
| NR_109969.2:n.1212A>G |