Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16290532T>A , CM000668.2:g.16290532T>A | GRCh38 |
| NC_000006.11:g.16290763T>A , CM000668.1:g.16290763T>A | GRCh37 |
| NC_000006.10:g.16398742T>A | NCBI36 |
| NG_013303.1:g.56953T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006877.4:c.768T>A MANE Select | NP_006868.3:p.Phe256Leu |
| ENST00000259727.5:c.768T>A MANE Select | ENSP00000259727.4:p.Phe256Leu |
| NM_006877.3:c.768T>A | NP_006868.3:p.Phe256Leu |
| ENST00000259727.4:c.768T>A | ENSP00000259727.4:p.Phe256Leu |
| ENST00000540478.1:n.588T>A | |
| ENST00000543191.5:n.263T>A | |
| ENST00000544145.1:n.122T>A | |
| XM_011514508.1:c.911T>A | XP_011512810.1:p.Leu304Ter |
| XM_011514508.2:c.911T>A | XP_011512810.1:p.Leu304Ter |