Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14139186T>A , CM000665.2:g.14139186T>A | GRCh38 |
| NC_000003.11:g.14180686T>A , CM000665.1:g.14180686T>A | GRCh37 |
| NC_000003.10:g.14155687T>A | NCBI36 |
| NG_008975.1:g.19247T>A , LRG_435:g.19247T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.889T>A MANE Select | NP_077310.1:p.Phe297Ile |
| ENST00000306077.5:c.889T>A MANE Select | ENSP00000303992.5:p.Phe297Ile |
| NM_024334.2:c.889T>A , LRG_435t1:c.889T>A | NP_077310.1:p.Phe297Ile |
| ENST00000306077.4:c.889T>A | ENSP00000303992.4:p.Phe297Ile |
| ENST00000432444.2:c.*919T>A | ENSP00000395617.1:n.*919T>A |
| ENST00000601399.3:n.216T>A | |
| ENST00000608606.1:c.125T>A | |
| XM_011534109.1:c.784T>A | XP_011532411.1:p.Phe262Ile |
| XM_017007176.2:c.784T>A | XP_016862665.1:p.Phe262Ile |