gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02487629 (AFR)
Genomes Max Group AF
0.02383719 (AFR)
Exomes Max Group AF
0.02528964 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73947184C>T , CM000677.2:g.73947184C>T | GRCh38 |
| NC_000015.9:g.74239525C>T , CM000677.1:g.74239525C>T | GRCh37 |
| NC_000015.8:g.72026578C>T | NCBI36 |
| NG_011466.1:g.25737C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261921.8:c.1467C>T MANE Select | ENSP00000261921.7:p.Phe489= | |
| ENST00000261921.7:c.1467C>T | ENSP00000261921.7:p.Phe489= | |
| ENST00000566011.5:c.*355C>T | ENSP00000457827.1:n.*355C>T | |
| ENST00000566530.1:n.305C>T | ||
| NM_005576.2:c.1467C>T | NP_005567.2:p.Phe489= | |
| XR_931824.1:n.1984C>T | ||
| NM_005576.3:c.1467C>T | NP_005567.2:p.Phe489= | |
| XM_017022179.1:c.420C>T | XP_016877668.1:p.Phe140= | |
| XR_931824.2:n.1973C>T | ||
| NM_005576.4:c.1467C>T MANE Select | NP_005567.2:p.Phe489= |