ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00033494 (MID)
Genomes Max Group AF
0.00008869 (AMR)
Exomes Max Group AF
0.00035194 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156879124C>G , CM000663.2:g.156879124C>G | GRCh38 |
| NC_000001.10:g.156848916C>G , CM000663.1:g.156848916C>G | GRCh37 |
| NC_000001.9:g.155115540C>G | NCBI36 |
| NG_007493.1:g.68375C>G , LRG_261:g.68375C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674537.2:c.1628C>G | ENSP00000502725.1:p.Ser543Cys | |
| ENST00000392302.7:c.1628C>G | ENSP00000376120.3:p.Ser543Cys | |
| ENST00000497019.7:c.*400C>G | ENSP00000436804.2:n.*400C>G | |
| ENST00000524377.7:c.1808C>G MANE Select | ENSP00000431418.1:p.Ser603Cys | |
| ENST00000674537.1:c.1628C>G | ENSP00000502725.1:p.Ser543Cys | |
| ENST00000358660.3:c.1799C>G | ENSP00000351486.3:p.Ser600Cys | |
| ENST00000368196.7:c.1790C>G | ENSP00000357179.3:p.Ser597Cys | |
| ENST00000392302.6:c.1700C>G | ENSP00000376120.2:p.Ser567Cys | |
| ENST00000497019.6:c.*400C>G | ENSP00000436804.1:n.*400C>G | |
| ENST00000524377.5:c.1808C>G | ENSP00000431418.1:p.Ser603Cys | |
| ENST00000530298.5:n.2261C>G | ||
| NM_001007792.1:c.1700C>G , LRG_261t1:c.1700C>G | NP_001007793.1:p.Ser567Cys | |
| NM_001012331.1:c.1790C>G , LRG_261t2:c.1790C>G | NP_001012331.1:p.Ser597Cys | |
| NM_002529.3:c.1808C>G , LRG_261t3:c.1808C>G | NP_002520.2:p.Ser603Cys | |
| NM_001012331.2:c.1790C>G | NP_001012331.1:p.Ser597Cys | |
| NM_002529.4:c.1808C>G MANE Select | NP_002520.2:p.Ser603Cys |