gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00016628 (AMR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00020649 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.67754158G>A , CM000676.2:g.67754158G>A | GRCh38 |
| NC_000014.8:g.68220875G>A , CM000676.1:g.68220875G>A | GRCh37 |
| NC_000014.7:g.67290628G>A | NCBI36 |
| NG_011836.1:g.67432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347230.9:c.7041C>T MANE Select | ENSP00000251119.5:p.Cys2347= | |
| ENST00000676512.1:c.7059C>T | ENSP00000504552.1:p.Cys2353= | |
| ENST00000676620.1:c.6963C>T | ENSP00000504587.1:p.Cys2321= | |
| ENST00000678386.1:c.7086C>T | ENSP00000503677.1:p.Cys2362= | |
| ENST00000347230.8:c.7041C>T | ENSP00000251119.5:p.Cys2347= | |
| ENST00000394455.6:n.2304C>T | ||
| ENST00000554523.5:n.7796C>T | ||
| ENST00000554557.5:c.*5019C>T | ENSP00000450431.1:n.*5019C>T | |
| ENST00000554783.1:n.729C>T | ||
| ENST00000557306.1:c.579C>T | ENSP00000452142.1:p.Cys193= | |
| NM_015346.3:c.7041C>T | NP_056161.2:p.Cys2347= | |
| XM_006720093.2:c.7041C>T | XP_006720156.1:p.Cys2347= | |
| XM_011536606.1:c.5532C>T | XP_011534908.1:p.Cys1844= | |
| XM_011536607.1:c.4716C>T | XP_011534909.1:p.Cys1572= | |
| XM_011536608.1:c.4623C>T | XP_011534910.1:p.Cys1541= | |
| XM_017021124.1:c.7059C>T | XP_016876613.1:p.Cys2353= | |
| XM_017021125.1:c.7059C>T | XP_016876614.1:p.Cys2353= | |
| XM_017021126.1:c.5550C>T | XP_016876615.1:p.Cys1850= | |
| XM_017021127.2:c.4734C>T | XP_016876616.1:p.Cys1578= | |
| XM_017021128.1:c.4641C>T | XP_016876617.1:p.Cys1547= | |
| NM_015346.4:c.7041C>T MANE Select | NP_056161.2:p.Cys2347= |