Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718098T>C , CM000674.2:g.12718098T>C | GRCh38 |
| NC_000012.11:g.12871032T>C , CM000674.1:g.12871032T>C | GRCh37 |
| NC_000012.10:g.12762299T>C | NCBI36 |
| NG_016341.1:g.5731T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.259T>C | ENSP00000507272.1:p.Phe87Leu | |
| ENST00000682620.1:n.1631-727T>C | ||
| ENST00000684771.1:n.585-727T>C | ||
| ENST00000228872.9:c.259T>C MANE Select | ENSP00000228872.4:p.Phe87Leu | |
| ENST00000228872.8:c.259T>C | ENSP00000228872.4:p.Phe87Leu | |
| ENST00000396340.1:c.259T>C | ENSP00000379629.1:p.Phe87Leu | |
| ENST00000442489.1:c.193+45T>C | ENSP00000407597.1:n.193+45T>C | |
| ENST00000477087.1:n.155-727T>C | ||
| NM_004064.4:c.259T>C | NP_004055.1:p.Phe87Leu | |
| NM_004064.5:c.259T>C MANE Select | NP_004055.1:p.Phe87Leu |