Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35312430C>A , CM000668.2:g.35312430C>A | GRCh38 |
| NC_000006.11:g.35280207C>A , CM000668.1:g.35280207C>A | GRCh37 |
| NC_000006.10:g.35388185C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022047.4:c.552C>A MANE Select | NP_071330.3:p.Phe184Leu |
| ENST00000316637.7:c.552C>A MANE Select | ENSP00000319831.5:p.Phe184Leu |
| NM_022047.3:c.552C>A | NP_071330.3:p.Phe184Leu |
| ENST00000316637.6:c.552C>A | ENSP00000319831.5:p.Phe184Leu |
| ENST00000444278.2:c.277C>A | |
| ENST00000444278.3:c.441C>A | ENSP00000415357.3:p.Phe147Leu |
| ENST00000698929.1:c.423+1786C>A | ENSP00000514040.1:n.423+1786C>A |
| ENST00000698930.1:c.*199C>A | ENSP00000514041.1:n.*199C>A |
| ENST00000698931.1:n.576C>A |