gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000478 (NFE)
Exomes Max Group AF
0.00000445 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67259395C>T , CM000663.2:g.67259395C>T | GRCh38 |
| NC_000001.10:g.67725078C>T , CM000663.1:g.67725078C>T | GRCh37 |
| NC_000001.9:g.67497666C>T | NCBI36 |
| NG_011498.1:g.97910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347310.10:c.*267C>T MANE Select | ENSP00000321345.5:n.*267C>T | |
| ENST00000347310.9:c.*267C>T | ENSP00000321345.5:n.*267C>T | |
| ENST00000395227.2:c.*267C>T | ENSP00000378652.2:n.*267C>T | |
| ENST00000473881.2:c.*983C>T | ENSP00000486667.1:n.*983C>T | |
| NM_144701.2:c.*267C>T | NP_653302.2:n.*267C>T | |
| XM_005270516.2:c.*267C>T | XP_005270573.1:n.*267C>T | |
| XM_011540789.1:c.*267C>T | XP_011539091.1:n.*267C>T | |
| XM_011540790.1:c.*267C>T | XP_011539092.1:n.*267C>T | |
| XM_011540791.1:c.*267C>T | XP_011539093.1:n.*267C>T | |
| XM_011540790.3:c.*267C>T | XP_011539092.1:n.*267C>T | |
| XM_011540791.3:c.*267C>T | XP_011539093.1:n.*267C>T | |
| NM_144701.3:c.*267C>T MANE Select | NP_653302.2:n.*267C>T |