dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48092007 (AMR)
Genomes Max Group AF
0.44727064 (EAS)
Exomes Max Group AF
0.50011124 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160451119C>T , CM000668.2:g.160451119C>T | GRCh38 |
| NC_000006.11:g.160872151C>T , CM000668.1:g.160872151C>T | GRCh37 |
| NC_000006.10:g.160792141C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275300.3:c.*63C>T MANE Select | ENSP00000275300.2:n.*63C>T | |
| ENST00000275300.2:c.*63C>T | ENSP00000275300.2:n.*63C>T | |
| NM_021977.3:c.*63C>T | NP_068812.1:n.*63C>T | |
| XM_005267106.3:c.*63C>T | XP_005267163.1:n.*63C>T | |
| XM_011536075.1:c.*63C>T | XP_011534377.1:n.*63C>T | |
| XM_011536076.1:c.*63C>T | XP_011534378.1:n.*63C>T | |
| XM_011536077.1:c.*63C>T | XP_011534379.1:n.*63C>T | |
| XM_005267106.5:c.*63C>T | XP_005267163.1:n.*63C>T | |
| XM_011536075.2:c.*63C>T | XP_011534377.1:n.*63C>T | |
| XM_011536076.3:c.*63C>T | XP_011534378.1:n.*63C>T | |
| XM_017011203.2:c.*63C>T | XP_016866692.1:n.*63C>T | |
| XR_001743588.1:n.1678C>T | ||
| XR_001743589.1:n.1463C>T | ||
| NM_021977.4:c.*63C>T MANE Select | NP_068812.1:n.*63C>T |