Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100812854A>G , CM000669.2:g.100812854A>G | GRCh38 |
| NC_000007.13:g.100410476A>G , CM000669.1:g.100410476A>G | GRCh37 |
| NC_000007.12:g.100248412A>G | NCBI36 |
| NG_052671.1:g.19668T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004444.5:c.2011T>C MANE Select | NP_004435.3:p.Phe671Leu |
| ENST00000358173.8:c.2011T>C MANE Select | ENSP00000350896.3:p.Phe671Leu |
| NM_004444.4:c.2011T>C | NP_004435.3:p.Phe671Leu |
| ENST00000358173.7:c.2011T>C | ENSP00000350896.3:p.Phe671Leu |
| ENST00000360620.7:c.2011T>C | ENSP00000353833.3:p.Phe671Leu |
| ENST00000467515.1:n.386T>C | |
| ENST00000478459.5:n.490T>C | |
| ENST00000487222.5:n.3212T>C | |
| ENST00000616502.4:c.*476T>C | ENSP00000482702.1:n.*476T>C |
| XM_017011816.1:c.2065T>C | XP_016867305.1:p.Phe689Leu |