Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100812852G>T , CM000669.2:g.100812852G>T | GRCh38 |
| NC_000007.13:g.100410474G>T , CM000669.1:g.100410474G>T | GRCh37 |
| NC_000007.12:g.100248410G>T | NCBI36 |
| NG_052671.1:g.19670C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004444.5:c.2013C>A MANE Select | NP_004435.3:p.Phe671Leu |
| ENST00000358173.8:c.2013C>A MANE Select | ENSP00000350896.3:p.Phe671Leu |
| NM_004444.4:c.2013C>A | NP_004435.3:p.Phe671Leu |
| ENST00000358173.7:c.2013C>A | ENSP00000350896.3:p.Phe671Leu |
| ENST00000360620.7:c.2013C>A | ENSP00000353833.3:p.Phe671Leu |
| ENST00000467515.1:n.388C>A | |
| ENST00000478459.5:n.492C>A | |
| ENST00000487222.5:n.3214C>A | |
| ENST00000616502.4:c.*478C>A | ENSP00000482702.1:n.*478C>A |
| XM_017011816.1:c.2067C>A | XP_016867305.1:p.Phe689Leu |