Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14135194C>A , CM000665.2:g.14135194C>A | GRCh38 |
| NC_000003.11:g.14176694C>A , CM000665.1:g.14176694C>A | GRCh37 |
| NC_000003.10:g.14151695C>A | NCBI36 |
| NG_008975.1:g.15255C>A , LRG_435:g.15255C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.742C>A MANE Select | NP_077310.1:p.Leu248Met |
| ENST00000306077.5:c.742C>A MANE Select | ENSP00000303992.5:p.Leu248Met |
| NM_024334.2:c.742C>A , LRG_435t1:c.742C>A | NP_077310.1:p.Leu248Met |
| ENST00000306077.4:c.742C>A | ENSP00000303992.4:p.Leu248Met |
| ENST00000432444.2:c.*772C>A | ENSP00000395617.1:n.*772C>A |
| XM_011534109.1:c.637C>A | XP_011532411.1:p.Leu213Met |
| XM_017007176.2:c.637C>A | XP_016862665.1:p.Leu213Met |