gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002978 (EAS)
Exomes Max Group AF
0.00002003 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66558135T>C , CM000673.2:g.66558135T>C | GRCh38 |
| NC_000011.9:g.66325606T>C , CM000673.1:g.66325606T>C | GRCh37 |
| NC_000011.8:g.66082182T>C | NCBI36 |
| NG_013304.2:g.16216T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000513398.2:c.1237T>C MANE Select | ENSP00000426797.1:p.Phe413Leu | |
| ENST00000502692.5:c.1366T>C | ENSP00000422007.1:p.Phe456Leu | |
| ENST00000513398.1:c.1237T>C | ENSP00000426797.1:p.Phe413Leu | |
| NM_001104.3:c.1237T>C | NP_001095.2:p.Phe413Leu | |
| NM_001258371.2:c.1366T>C | NP_001245300.2:p.Phe456Leu | |
| NM_001104.4:c.1237T>C MANE Select | NP_001095.2:p.Phe413Leu | |
| NM_001258371.3:c.1366T>C | NP_001245300.2:p.Phe456Leu |