gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01371519 (AFR)
Genomes Max Group AF
0.01394116 (AFR)
Exomes Max Group AF
0.01278841 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42538482G>T , CM000679.2:g.42538482G>T | GRCh38 |
| NC_000017.10:g.40690500G>T , CM000679.1:g.40690500G>T | GRCh37 |
| NC_000017.9:g.37944026G>T | NCBI36 |
| NG_011552.1:g.7550G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.675G>T MANE Select | ENSP00000225927.1:p.Leu225= | |
| ENST00000225927.6:c.675G>T | ENSP00000225927.1:p.Leu225= | |
| ENST00000586516.5:c.277G>T | ||
| ENST00000591587.1:c.270G>T | ENSP00000467836.1:p.Leu90= | |
| NM_000263.3:c.675G>T | NP_000254.2:p.Leu225= | |
| XM_006721920.2:c.-68G>T | XP_006721983.1:n.-68G>T | |
| XM_011524840.1:c.-68G>T | XP_011523142.1:n.-68G>T | |
| XM_017024687.1:c.-68G>T | XP_016880176.1:n.-68G>T | |
| XM_024450771.1:c.732G>T | XP_024306539.1:p.Leu244= | |
| XM_024450772.1:c.-68G>T | XP_024306540.1:n.-68G>T | |
| NM_000263.4:c.675G>T MANE Select | NP_000254.2:p.Leu225= |