gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000103 (NFE)
Exomes Max Group AF
0.00001093 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28900841C>A , CM000678.2:g.28900841C>A | GRCh38 |
| NC_000016.9:g.28912162C>A , CM000678.1:g.28912162C>A | GRCh37 |
| NC_000016.8:g.28819663C>A | NCBI36 |
| NG_023327.1:g.27354C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395503.9:c.2025C>A MANE Select | ENSP00000378879.5:p.Cys675Ter | |
| ENST00000357084.7:c.2025C>A | ENSP00000349595.3:p.Cys675Ter | |
| ENST00000395503.8:c.2025C>A | ENSP00000378879.4:p.Cys675Ter | |
| ENST00000536376.5:c.1650C>A | ENSP00000443101.1:p.Cys550Ter | |
| NM_001286075.1:c.1650C>A | NP_001273004.1:p.Cys550Ter | |
| NM_004320.4:c.2025C>A | NP_004311.1:p.Cys675Ter | |
| NM_173201.3:c.2025C>A | NP_775293.1:p.Cys675Ter | |
| NM_004320.6:c.2025C>A MANE Select | NP_004311.1:p.Cys675Ter | |
| NM_173201.4:c.2025C>A | NP_775293.1:p.Cys675Ter | |
| NM_001286075.2:c.1650C>A | NP_001273004.1:p.Cys550Ter | |
| NM_173201.5:c.2025C>A | NP_775293.1:p.Cys675Ter |