gnomAD v4:
Joint Max Group AF
0.00005738 (SAS)
Exomes Max Group AF
0.00006171 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67259213C>T , CM000663.2:g.67259213C>T | GRCh38 |
| NC_000001.10:g.67724896C>T , CM000663.1:g.67724896C>T | GRCh37 |
| NC_000001.9:g.67497484C>T | NCBI36 |
| NG_011498.1:g.97728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347310.10:c.*85C>T MANE Select | ENSP00000321345.5:n.*85C>T | |
| ENST00000347310.9:c.*85C>T | ENSP00000321345.5:n.*85C>T | |
| ENST00000395227.2:c.*85C>T | ENSP00000378652.2:n.*85C>T | |
| ENST00000425614.3:c.*85C>T | ENSP00000387640.2:n.*85C>T | |
| ENST00000473881.2:c.*801C>T | ENSP00000486667.1:n.*801C>T | |
| NM_144701.2:c.*85C>T | NP_653302.2:n.*85C>T | |
| XM_005270516.2:c.*85C>T | XP_005270573.1:n.*85C>T | |
| XM_011540789.1:c.*85C>T | XP_011539091.1:n.*85C>T | |
| XM_011540790.1:c.*85C>T | XP_011539092.1:n.*85C>T | |
| XM_011540791.1:c.*85C>T | XP_011539093.1:n.*85C>T | |
| XM_011540790.3:c.*85C>T | XP_011539092.1:n.*85C>T | |
| XM_011540791.3:c.*85C>T | XP_011539093.1:n.*85C>T | |
| NM_144701.3:c.*85C>T MANE Select | NP_653302.2:n.*85C>T |