COSMIC:
COSM147877
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66256861 (AFR)
Genomes Max Group AF
0.65469879 (AFR)
Exomes Max Group AF
0.66786122 (AFR)
Revel Score:
ENST00000350221 (MANE Select)
0.008
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39618230A>G , CM000677.2:g.39618230A>G | GRCh38 |
| NC_000015.9:g.39910431A>G , CM000677.1:g.39910431A>G | GRCh37 |
| NC_000015.8:g.37697723A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350221.4:c.1204T>C MANE Select | ENSP00000280236.3:p.Cys402Arg | |
| ENST00000642527.1:c.14T>C | ||
| ENST00000350221.3:c.1204T>C | ENSP00000280236.3:p.Cys402Arg | |
| NM_152597.4:c.1204T>C | NP_689810.3:p.Cys402Arg | |
| XM_005254208.2:c.1204T>C | XP_005254265.1:p.Cys402Arg | |
| XM_011521305.1:c.1204T>C | XP_011519607.1:p.Cys402Arg | |
| XM_011521306.1:c.1204T>C | XP_011519608.1:p.Cys402Arg | |
| XM_011521308.1:c.1200T>C | XP_011519610.1:p.His400= | |
| XM_011521311.1:c.574T>C | XP_011519613.1:p.Cys192Arg | |
| NM_001324338.1:c.1204T>C | NP_001311267.1:p.Cys402Arg | |
| XM_011521305.3:c.1204T>C | XP_011519607.1:p.Cys402Arg | |
| XM_011521306.2:c.1204T>C | XP_011519608.1:p.Cys402Arg | |
| XM_011521311.3:c.574T>C | XP_011519613.1:p.Cys192Arg | |
| XM_017021972.2:c.574T>C | XP_016877461.1:p.Cys192Arg | |
| NM_152597.5:c.1204T>C MANE Select | NP_689810.3:p.Cys402Arg | |
| NM_001324338.2:c.1204T>C | NP_001311267.1:p.Cys402Arg |