COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1619613 (EAS)
Genomes Max Group AF
0.03384956 (EAS)
Exomes Max Group AF
0.17819073 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12726767C>T , CM000686.2:g.12726767C>T | GRCh38 |
| NC_000024.9:g.14838700C>T , CM000686.1:g.14838700C>T | GRCh37 |
| NC_000024.8:g.13348094C>T | NCBI36 |
| NG_008311.1:g.30541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.631C>T | ENSP00000498372.1:p.Arg211Cys | |
| ENST00000338981.7:c.631C>T MANE Select | ENSP00000342812.3:p.Arg211Cys | |
| ENST00000426564.6:n.643C>T | ||
| NM_004654.3:c.631C>T | NP_004645.2:p.Arg211Cys | |
| XM_011531469.1:c.631C>T | XP_011529771.1:p.Arg211Cys | |
| XM_011531470.1:c.397C>T | XP_011529772.1:p.Arg133Cys | |
| XM_017030078.2:c.631C>T | XP_016885567.1:p.Arg211Cys | |
| NM_004654.4:c.631C>T MANE Select | NP_004645.2:p.Arg211Cys |