ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00043611 (NFE)
Genomes Max Group AF
0.00027992 (NFE)
Exomes Max Group AF
0.00043882 (NFE)
Revel Score:
ENST00000261769 (MANE Select)
0.207
ENST00000379120
0.207
ENST00000268794
0.207
ENST00000422392
0.207
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68808831C>T , CM000678.2:g.68808831C>T | GRCh38 |
| NC_000016.9:g.68842734C>T , CM000678.1:g.68842734C>T | GRCh37 |
| NC_000016.8:g.67400235C>T | NCBI36 |
| NG_008021.1:g.76540C>T , LRG_301:g.76540C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.670C>T MANE Select | ENSP00000261769.4:p.Arg224Cys | |
| ENST00000261769.9:c.670C>T | ENSP00000261769.4:p.Arg224Cys | |
| ENST00000422392.6:c.670C>T | ENSP00000414946.2:p.Arg224Cys | |
| ENST00000561751.1:c.437C>T | ||
| ENST00000562836.5:n.741C>T | ||
| ENST00000564676.5:n.952C>T | ||
| ENST00000566510.5:c.531+264C>T | ENSP00000458139.1:n.531+264C>T | |
| ENST00000566612.5:c.670C>T | ENSP00000454782.1:p.Arg224Cys | |
| ENST00000567320.1:n.180C>T | ||
| ENST00000611625.4:c.670C>T | ENSP00000481063.1:p.Arg224Cys | |
| ENST00000612417.4:c.670C>T | ENSP00000478360.1:p.Arg224Cys | |
| ENST00000621016.4:c.670C>T | ENSP00000480664.1:p.Arg224Cys | |
| NM_004360.3:c.670C>T , LRG_301t1:c.670C>T | NP_004351.1:p.Arg224Cys | |
| XM_011523488.1:c.-66C>T | XP_011521790.1:n.-66C>T | |
| XM_011523489.1:c.-66C>T | XP_011521791.1:n.-66C>T | |
| NM_001317184.1:c.670C>T | NP_001304113.1:p.Arg224Cys | |
| NM_001317185.1:c.-946C>T | NP_001304114.1:n.-946C>T | |
| NM_001317186.1:c.-1150C>T | NP_001304115.1:n.-1150C>T | |
| NM_004360.4:c.670C>T | NP_004351.1:p.Arg224Cys | |
| NM_004360.5:c.670C>T MANE Select | NP_004351.1:p.Arg224Cys | |
| NM_001317184.2:c.670C>T | NP_001304113.1:p.Arg224Cys | |
| NM_001317185.2:c.-946C>T | NP_001304114.1:n.-946C>T | |
| NM_001317186.2:c.-1150C>T | NP_001304115.1:n.-1150C>T |