ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00004367 (AFR)
Exomes Max Group AF
0.0000975 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149936C>T , CM000665.2:g.10149936C>T | GRCh38 |
| NC_000003.11:g.10191620C>T , CM000665.1:g.10191620C>T | GRCh37 |
| NC_000003.10:g.10166620C>T | NCBI36 |
| NG_008212.3:g.13302C>T , LRG_322:g.13302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*290C>T | ENSP00000512434.1:n.*290C>T | |
| ENST00000696143.1:c.749C>T | ENSP00000512435.1:n.749C>T | |
| ENST00000696153.1:c.724C>T | ENSP00000512444.1:p.Arg242Cys | |
| ENST00000256474.3:c.613C>T MANE Select | ENSP00000256474.3:p.Arg205Cys | |
| ENST00000256474.2:c.613C>T | ENSP00000256474.2:p.Arg205Cys | |
| ENST00000345392.2:c.490C>T | ENSP00000344757.2:p.Arg164Cys | |
| ENST00000477538.1:n.749C>T | ||
| NM_000551.3:c.613C>T , LRG_322t1:c.613C>T | NP_000542.1:p.Arg205Cys | |
| NM_198156.2:c.490C>T | NP_937799.1:p.Arg164Cys | |
| NM_001354723.1:c.*167C>T | NP_001341652.1:n.*167C>T | |
| NM_000551.4:c.613C>T MANE Select | NP_000542.1:p.Arg205Cys | |
| NM_001354723.2:c.*167C>T | NP_001341652.1:n.*167C>T | |
| NM_198156.3:c.490C>T | NP_937799.1:p.Arg164Cys |