ClinVar RCV:
ClinVar Variation:
COSMIC:
COSM5670241
COSM5670242
COSM5670243
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00020941 (AFR)
Genomes Max Group AF
0.00016621 (AFR)
Exomes Max Group AF
0.00018338 (AFR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48127938C>T , CM000673.2:g.48127938C>T | GRCh38 |
| NC_000011.9:g.48149490C>T , CM000673.1:g.48149490C>T | GRCh37 |
| NC_000011.8:g.48106066C>T | NCBI36 |
| NG_012209.1:g.152381C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.1594C>T | ENSP00000514003.1:p.Arg532Cys | |
| ENST00000418331.7:c.1252C>T MANE Select | ENSP00000400010.2:p.Arg418Cys | |
| ENST00000418331.6:c.1252C>T | ENSP00000400010.2:p.Arg418Cys | |
| ENST00000440289.6:c.1252C>T | ENSP00000409733.2:p.Arg418Cys | |
| ENST00000613246.4:c.1252C>T | ENSP00000477933.1:p.Arg418Cys | |
| ENST00000615445.4:c.1252C>T | ENSP00000479342.1:p.Arg418Cys | |
| NM_001098503.1:c.1252C>T | NP_001091973.1:p.Arg418Cys | |
| NM_002843.3:c.1252C>T | NP_002834.3:p.Arg418Cys | |
| XM_011520249.1:c.1285C>T | XP_011518551.1:p.Arg429Cys | |
| XR_930883.1:n.1602C>T | ||
| XM_017018083.1:c.1330C>T | XP_016873572.1:p.Arg444Cys | |
| XM_017018084.1:c.1273C>T | XP_016873573.1:p.Arg425Cys | |
| XM_017018085.1:c.1204C>T | XP_016873574.1:p.Arg402Cys | |
| XR_930883.2:n.1661C>T | ||
| NM_002843.4:c.1252C>T MANE Select | NP_002834.3:p.Arg418Cys | |
| NM_001098503.2:c.1252C>T | NP_001091973.1:p.Arg418Cys |